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<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/title> "Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/abstract> "Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromosome 21q21.3 and identified bi-allelic variants in JAM2. JAM2 encodes for the junctional-adhesion-molecule-2, a key tight-junction protein in blood-brain-barrier permeability. We show that JAM2 variants lead to reduction of JAM2 mRNA expression and absence of JAM2 protein in patient’s fibroblasts, consistent with a loss-of-function mechanism. We show that the human phenotype is replicated in the jam2 complete knockout mouse (jam2 KO). Furthermore, neuropathology of jam2 KO mouse showed prominent vacuolation in the cerebral cortex, thalamus, and cerebellum and particularly widespread vacuolation in the midbrain with reactive astrogliosis and neuronal density reduction. The regions of the human brain affected on neuroimaging are similar to the affected brain areas in the myorg PFBC null mouse. Along with JAM3 and OCLN, JAM2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification, suggesting that defective cell-to-cell adhesion and dysfunction of the movement of solutes through the paracellular spaces in the neurovascular unit is a key mechanism in CNS calcification."^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/date> "2020-03-05" .
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<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6259caa9f046b02252703a7014a901bc> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_30> <https://discovery.ucl.ac.uk/id/person/ext-6259caa9f046b02252703a7014a901bc> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-86c487b0fbfe921168b06cde79b0ec35> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_31> <https://discovery.ucl.ac.uk/id/person/ext-86c487b0fbfe921168b06cde79b0ec35> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-750768ac0a82cfbfbdd68281b5bfe20c> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_32> <https://discovery.ucl.ac.uk/id/person/ext-750768ac0a82cfbfbdd68281b5bfe20c> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-ea01d52dbac4978dadd7c26fa61d02cb> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_33> <https://discovery.ucl.ac.uk/id/person/ext-ea01d52dbac4978dadd7c26fa61d02cb> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-ab30185b69ba1f186a16328d310ccca3> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_34> <https://discovery.ucl.ac.uk/id/person/ext-ab30185b69ba1f186a16328d310ccca3> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-c4e9c601496c2f29e66d7e8d0ab7e911> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_35> <https://discovery.ucl.ac.uk/id/person/ext-c4e9c601496c2f29e66d7e8d0ab7e911> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6e7de66f29051dca0d5d8fc01740c239> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_36> <https://discovery.ucl.ac.uk/id/person/ext-6e7de66f29051dca0d5d8fc01740c239> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-630c944c14e32fb293795417ff6b0708> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10093228#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10093228#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_37> <https://discovery.ucl.ac.uk/id/person/ext-630c944c14e32fb293795417ff6b0708> .
<https://discovery.ucl.ac.uk/id/person/ext-ef5a5e8b317a19350b05da52e9907d53> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-ef5a5e8b317a19350b05da52e9907d53> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ef5a5e8b317a19350b05da52e9907d53> <http://xmlns.com/foaf/0.1/familyName> "Khan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ef5a5e8b317a19350b05da52e9907d53> <http://xmlns.com/foaf/0.1/name> "S Khan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6e7de66f29051dca0d5d8fc01740c239> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-6e7de66f29051dca0d5d8fc01740c239> <http://xmlns.com/foaf/0.1/givenName> "M"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6e7de66f29051dca0d5d8fc01740c239> <http://xmlns.com/foaf/0.1/familyName> "Aurrand-Lions"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6e7de66f29051dca0d5d8fc01740c239> <http://xmlns.com/foaf/0.1/name> "M Aurrand-Lions"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6fdf3d16afce702856ae18ca668e559b> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-6fdf3d16afce702856ae18ca668e559b> <http://xmlns.com/foaf/0.1/givenName> ""^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6fdf3d16afce702856ae18ca668e559b> <http://xmlns.com/foaf/0.1/familyName> "SYNAPS Study Group"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6fdf3d16afce702856ae18ca668e559b> <http://xmlns.com/foaf/0.1/name> " SYNAPS Study Group"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a4b4fa348ed0d68d6d1845334e64c738> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-a4b4fa348ed0d68d6d1845334e64c738> <http://xmlns.com/foaf/0.1/givenName> "LV"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a4b4fa348ed0d68d6d1845334e64c738> <http://xmlns.com/foaf/0.1/familyName> "Schottlaender"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a4b4fa348ed0d68d6d1845334e64c738> <http://xmlns.com/foaf/0.1/name> "LV Schottlaender"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1af71db9b8922091b83fe7f80e00c0ae> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-1af71db9b8922091b83fe7f80e00c0ae> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1af71db9b8922091b83fe7f80e00c0ae> <http://xmlns.com/foaf/0.1/familyName> "Efthymiou"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1af71db9b8922091b83fe7f80e00c0ae> <http://xmlns.com/foaf/0.1/name> "S Efthymiou"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a45f484d8c1398510bad8316255c32e2> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-a45f484d8c1398510bad8316255c32e2> <http://xmlns.com/foaf/0.1/givenName> "MPM"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a45f484d8c1398510bad8316255c32e2> <http://xmlns.com/foaf/0.1/familyName> "Soutar"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a45f484d8c1398510bad8316255c32e2> <http://xmlns.com/foaf/0.1/name> "MPM Soutar"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2270fc868081fec805a7015e54465dab> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-2270fc868081fec805a7015e54465dab> <http://xmlns.com/foaf/0.1/givenName> "B"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2270fc868081fec805a7015e54465dab> <http://xmlns.com/foaf/0.1/familyName> "Kalmar"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2270fc868081fec805a7015e54465dab> <http://xmlns.com/foaf/0.1/name> "B Kalmar"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-5252d4055898e3f39081ddac4d45e651> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-5252d4055898e3f39081ddac4d45e651> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-5252d4055898e3f39081ddac4d45e651> <http://xmlns.com/foaf/0.1/familyName> "Bisgin"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-5252d4055898e3f39081ddac4d45e651> <http://xmlns.com/foaf/0.1/name> "A Bisgin"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-86c487b0fbfe921168b06cde79b0ec35> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-86c487b0fbfe921168b06cde79b0ec35> <http://xmlns.com/foaf/0.1/givenName> "E"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-86c487b0fbfe921168b06cde79b0ec35> <http://xmlns.com/foaf/0.1/familyName> "Torti"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-86c487b0fbfe921168b06cde79b0ec35> <http://xmlns.com/foaf/0.1/name> "E Torti"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-e5badacd94b6628a0dbe4cac391a80a1> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-e5badacd94b6628a0dbe4cac391a80a1> <http://xmlns.com/foaf/0.1/givenName> "JR"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-e5badacd94b6628a0dbe4cac391a80a1> <http://xmlns.com/foaf/0.1/familyName> "Mendes de Oliveira"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-e5badacd94b6628a0dbe4cac391a80a1> <http://xmlns.com/foaf/0.1/name> "JR Mendes de Oliveira"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c4e9c601496c2f29e66d7e8d0ab7e911> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-c4e9c601496c2f29e66d7e8d0ab7e911> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c4e9c601496c2f29e66d7e8d0ab7e911> <http://xmlns.com/foaf/0.1/familyName> "Brandner"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c4e9c601496c2f29e66d7e8d0ab7e911> <http://xmlns.com/foaf/0.1/name> "S Brandner"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1ee91f62ff23236a8212bf2be347f4ea> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-1ee91f62ff23236a8212bf2be347f4ea> <http://xmlns.com/foaf/0.1/givenName> "V"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1ee91f62ff23236a8212bf2be347f4ea> <http://xmlns.com/foaf/0.1/familyName> "Chelban"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1ee91f62ff23236a8212bf2be347f4ea> <http://xmlns.com/foaf/0.1/name> "V Chelban"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-629b43f4c8fc9a1f1f6a49db34e8cddd> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-629b43f4c8fc9a1f1f6a49db34e8cddd> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-629b43f4c8fc9a1f1f6a49db34e8cddd> <http://xmlns.com/foaf/0.1/familyName> "Tug Bozdogan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-629b43f4c8fc9a1f1f6a49db34e8cddd> <http://xmlns.com/foaf/0.1/name> "S Tug Bozdogan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-79978af6f33d33b440ff91b451d4a8e6> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-79978af6f33d33b440ff91b451d4a8e6> <http://xmlns.com/foaf/0.1/givenName> "G"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-79978af6f33d33b440ff91b451d4a8e6> <http://xmlns.com/foaf/0.1/familyName> "Hotton"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-79978af6f33d33b440ff91b451d4a8e6> <http://xmlns.com/foaf/0.1/name> "G Hotton"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ef20340b596a78d6d8375fc1149b49ba> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-ef20340b596a78d6d8375fc1149b49ba> <http://xmlns.com/foaf/0.1/givenName> "C"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ef20340b596a78d6d8375fc1149b49ba> <http://xmlns.com/foaf/0.1/familyName> "Beetz"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ef20340b596a78d6d8375fc1149b49ba> <http://xmlns.com/foaf/0.1/name> "C Beetz"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-910bdbb6b412b374b835e54db720e22c> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-910bdbb6b412b374b835e54db720e22c> <http://xmlns.com/foaf/0.1/givenName> "JH"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-910bdbb6b412b374b835e54db720e22c> <http://xmlns.com/foaf/0.1/familyName> "Livingston"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-910bdbb6b412b374b835e54db720e22c> <http://xmlns.com/foaf/0.1/name> "JH Livingston"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-858e3cf8b4c5ea277a68f70d189bfa8b> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-858e3cf8b4c5ea277a68f70d189bfa8b> <http://xmlns.com/foaf/0.1/givenName> "O"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-858e3cf8b4c5ea277a68f70d189bfa8b> <http://xmlns.com/foaf/0.1/familyName> "Swayne"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-858e3cf8b4c5ea277a68f70d189bfa8b> <http://xmlns.com/foaf/0.1/name> "O Swayne"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c10c40d197e75ea1a5d219181a740e89> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-c10c40d197e75ea1a5d219181a740e89> <http://xmlns.com/foaf/0.1/givenName> "R"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c10c40d197e75ea1a5d219181a740e89> <http://xmlns.com/foaf/0.1/familyName> "Maroofian"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c10c40d197e75ea1a5d219181a740e89> <http://xmlns.com/foaf/0.1/name> "R Maroofian"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-214c9419a88da5e1d90152a13ebca8a4> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-214c9419a88da5e1d90152a13ebca8a4> <http://xmlns.com/foaf/0.1/givenName> "B"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-214c9419a88da5e1d90152a13ebca8a4> <http://xmlns.com/foaf/0.1/familyName> "O'Callaghan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-214c9419a88da5e1d90152a13ebca8a4> <http://xmlns.com/foaf/0.1/name> "B O'Callaghan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-d172294ff365fde75c6258aa124530e7> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-d172294ff365fde75c6258aa124530e7> <http://xmlns.com/foaf/0.1/givenName> "J"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-d172294ff365fde75c6258aa124530e7> <http://xmlns.com/foaf/0.1/familyName> "Althonayan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-d172294ff365fde75c6258aa124530e7> <http://xmlns.com/foaf/0.1/name> "J Althonayan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a800c0e64d4f6b0647c77136ea5132de> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-a800c0e64d4f6b0647c77136ea5132de> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a800c0e64d4f6b0647c77136ea5132de> <http://xmlns.com/foaf/0.1/familyName> "Richard-Loendt"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a800c0e64d4f6b0647c77136ea5132de> <http://xmlns.com/foaf/0.1/name> "A Richard-Loendt"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f52db9e85be4995123e6a31573082f1b> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-f52db9e85be4995123e6a31573082f1b> <http://xmlns.com/foaf/0.1/givenName> "C"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f52db9e85be4995123e6a31573082f1b> <http://xmlns.com/foaf/0.1/familyName> "Macmillan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f52db9e85be4995123e6a31573082f1b> <http://xmlns.com/foaf/0.1/name> "C Macmillan"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ea01d52dbac4978dadd7c26fa61d02cb> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-ea01d52dbac4978dadd7c26fa61d02cb> <http://xmlns.com/foaf/0.1/givenName> "P"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ea01d52dbac4978dadd7c26fa61d02cb> <http://xmlns.com/foaf/0.1/familyName> "Giunti"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ea01d52dbac4978dadd7c26fa61d02cb> <http://xmlns.com/foaf/0.1/name> "P Giunti"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-81d91e52588506fa734fe58e44bf8940> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-81d91e52588506fa734fe58e44bf8940> <http://xmlns.com/foaf/0.1/givenName> "J"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-81d91e52588506fa734fe58e44bf8940> <http://xmlns.com/foaf/0.1/familyName> "McKinley"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-81d91e52588506fa734fe58e44bf8940> <http://xmlns.com/foaf/0.1/name> "J McKinley"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c8e3dd1a6939ac58a8757722c4741db0> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-c8e3dd1a6939ac58a8757722c4741db0> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c8e3dd1a6939ac58a8757722c4741db0> <http://xmlns.com/foaf/0.1/familyName> "Carr"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c8e3dd1a6939ac58a8757722c4741db0> <http://xmlns.com/foaf/0.1/name> "A Carr"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6f097eba0ee06cc77cdfda2ed49524a8> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-6f097eba0ee06cc77cdfda2ed49524a8> <http://xmlns.com/foaf/0.1/givenName> "G"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6f097eba0ee06cc77cdfda2ed49524a8> <http://xmlns.com/foaf/0.1/familyName> "McDonnell"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6f097eba0ee06cc77cdfda2ed49524a8> <http://xmlns.com/foaf/0.1/name> "G McDonnell"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0e3d59d2c9dda277b198c829f1560801> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-0e3d59d2c9dda277b198c829f1560801> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0e3d59d2c9dda277b198c829f1560801> <http://xmlns.com/foaf/0.1/familyName> "Athanasiou-Fragkouli"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0e3d59d2c9dda277b198c829f1560801> <http://xmlns.com/foaf/0.1/name> "A Athanasiou-Fragkouli"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b6ff7baf1d72424dceb50060ffaac8a8> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-b6ff7baf1d72424dceb50060ffaac8a8> <http://xmlns.com/foaf/0.1/givenName> "R"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b6ff7baf1d72424dceb50060ffaac8a8> <http://xmlns.com/foaf/0.1/familyName> "Forbes"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b6ff7baf1d72424dceb50060ffaac8a8> <http://xmlns.com/foaf/0.1/name> "R Forbes"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-750768ac0a82cfbfbdd68281b5bfe20c> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-750768ac0a82cfbfbdd68281b5bfe20c> <http://xmlns.com/foaf/0.1/givenName> "L"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-750768ac0a82cfbfbdd68281b5bfe20c> <http://xmlns.com/foaf/0.1/familyName> "Greensmith"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-750768ac0a82cfbfbdd68281b5bfe20c> <http://xmlns.com/foaf/0.1/name> "L Greensmith"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ab30185b69ba1f186a16328d310ccca3> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-ab30185b69ba1f186a16328d310ccca3> <http://xmlns.com/foaf/0.1/givenName> "PJ"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ab30185b69ba1f186a16328d310ccca3> <http://xmlns.com/foaf/0.1/familyName> "Morrison"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ab30185b69ba1f186a16328d310ccca3> <http://xmlns.com/foaf/0.1/name> "PJ Morrison"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-630c944c14e32fb293795417ff6b0708> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-630c944c14e32fb293795417ff6b0708> <http://xmlns.com/foaf/0.1/givenName> "H"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-630c944c14e32fb293795417ff6b0708> <http://xmlns.com/foaf/0.1/familyName> "Houlden"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-630c944c14e32fb293795417ff6b0708> <http://xmlns.com/foaf/0.1/name> "H Houlden"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2f5f3d519296cbd4279701afd1c53ff6> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-2f5f3d519296cbd4279701afd1c53ff6> <http://xmlns.com/foaf/0.1/givenName> "Z"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2f5f3d519296cbd4279701afd1c53ff6> <http://xmlns.com/foaf/0.1/familyName> "Jaunmuktane"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2f5f3d519296cbd4279701afd1c53ff6> <http://xmlns.com/foaf/0.1/name> "Z Jaunmuktane"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-15a39bedc5a06c59a909a133703c22bf> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-15a39bedc5a06c59a909a133703c22bf> <http://xmlns.com/foaf/0.1/givenName> "R"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-15a39bedc5a06c59a909a133703c22bf> <http://xmlns.com/foaf/0.1/familyName> "Abeti"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-15a39bedc5a06c59a909a133703c22bf> <http://xmlns.com/foaf/0.1/name> "R Abeti"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-887348b25ff26221e42d828a1d3ccd98> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-887348b25ff26221e42d828a1d3ccd98> <http://xmlns.com/foaf/0.1/givenName> "M"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-887348b25ff26221e42d828a1d3ccd98> <http://xmlns.com/foaf/0.1/familyName> "de Grandis"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-887348b25ff26221e42d828a1d3ccd98> <http://xmlns.com/foaf/0.1/name> "M de Grandis"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-abbaada504de627f0ae5ede5e6708ba4> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-abbaada504de627f0ae5ede5e6708ba4> <http://xmlns.com/foaf/0.1/givenName> "F"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-abbaada504de627f0ae5ede5e6708ba4> <http://xmlns.com/foaf/0.1/familyName> "Launchbury"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-abbaada504de627f0ae5ede5e6708ba4> <http://xmlns.com/foaf/0.1/name> "F Launchbury"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-98da42abeb97b1655d9841df02a03f31> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-98da42abeb97b1655d9841df02a03f31> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-98da42abeb97b1655d9841df02a03f31> <http://xmlns.com/foaf/0.1/familyName> "Pittman"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-98da42abeb97b1655d9841df02a03f31> <http://xmlns.com/foaf/0.1/name> "A Pittman"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6259caa9f046b02252703a7014a901bc> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-6259caa9f046b02252703a7014a901bc> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6259caa9f046b02252703a7014a901bc> <http://xmlns.com/foaf/0.1/familyName> "Begtrup"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6259caa9f046b02252703a7014a901bc> <http://xmlns.com/foaf/0.1/name> "A Begtrup"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/EPrint> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/ArticleEPrint> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/repository> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://eprints.org/ontology/hasDocument> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068270> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> .
<https://discovery.ucl.ac.uk/id/document/1068270> <http://www.w3.org/2000/01/rdf-schema#label> "Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification (Text)"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://purl.org/dc/elements/1.1/hasVersion> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://eprints.org/ontology/hasPublished> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068270> <http://eprints.org/ontology/hasFile> <https://discovery.ucl.ac.uk/id/eprint/10093228/14/Brandner_1-s2.0-S0002929720300495-main.pdf> .
<https://discovery.ucl.ac.uk/id/document/1068270> <http://purl.org/dc/terms/hasPart> <https://discovery.ucl.ac.uk/id/eprint/10093228/14/Brandner_1-s2.0-S0002929720300495-main.pdf> .
<https://discovery.ucl.ac.uk/id/eprint/10093228/14/Brandner_1-s2.0-S0002929720300495-main.pdf> <http://www.w3.org/2000/01/rdf-schema#label> "Brandner_1-s2.0-S0002929720300495-main.pdf"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://eprints.org/ontology/hasDocument> <https://discovery.ucl.ac.uk/id/document/1068271> .
<https://discovery.ucl.ac.uk/id/document/1068271> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> .
<https://discovery.ucl.ac.uk/id/document/1068271> <http://www.w3.org/2000/01/rdf-schema#label> "Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification (Other)"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/document/1068271> <http://eprints.org/relation/isVersionOf> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068271> <http://eprints.org/relation/isVolatileVersionOf> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068271> <http://eprints.org/relation/islightboxThumbnailVersionOf> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068271> <http://eprints.org/ontology/hasFile> <https://discovery.ucl.ac.uk/id/eprint/10093228/15/lightbox.jpg> .
<https://discovery.ucl.ac.uk/id/document/1068271> <http://purl.org/dc/terms/hasPart> <https://discovery.ucl.ac.uk/id/eprint/10093228/15/lightbox.jpg> .
<https://discovery.ucl.ac.uk/id/eprint/10093228/15/lightbox.jpg> <http://www.w3.org/2000/01/rdf-schema#label> "lightbox.jpg"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://eprints.org/ontology/hasDocument> <https://discovery.ucl.ac.uk/id/document/1068272> .
<https://discovery.ucl.ac.uk/id/document/1068272> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> .
<https://discovery.ucl.ac.uk/id/document/1068272> <http://www.w3.org/2000/01/rdf-schema#label> "Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification (Other)"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/document/1068272> <http://eprints.org/relation/isVersionOf> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068272> <http://eprints.org/relation/isVolatileVersionOf> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068272> <http://eprints.org/relation/islightboxThumbnailVersionOf> <https://discovery.ucl.ac.uk/id/document/1068270> .
<https://discovery.ucl.ac.uk/id/document/1068272> <http://eprints.org/ontology/hasFile> <https://discovery.ucl.ac.uk/id/eprint/10093228/16/lightbox.jpg> .
<https://discovery.ucl.ac.uk/id/document/1068272> <http://purl.org/dc/terms/hasPart> <https://discovery.ucl.ac.uk/id/eprint/10093228/16/lightbox.jpg> .
<https://discovery.ucl.ac.uk/id/eprint/10093228/16/lightbox.jpg> <http://www.w3.org/2000/01/rdf-schema#label> "lightbox.jpg"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10093228> <http://eprints.org/ontology/hasDocument> <https://discovery.ucl.ac.uk/id/document/1068273> .
<https://discovery.ucl.ac.uk/id/document/1068273> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> .
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