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Delineating the expanding phenotype associated with SCAPER gene mutation

Fasham, J; Arno, G; Lin, S; Xu, M; Carss, KJ; Hull, S; Lane, A; ... NIHR Bioresource Rare Diseases Consortium; + view all (2019) Delineating the expanding phenotype associated with SCAPER gene mutation. [Letter]. American Journal of Medical Genetics Part A , 179 (8) pp. 1665-1671. 10.1002/ajmg.a.61202. Green open access

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Type: Article
Title: Delineating the expanding phenotype associated with SCAPER gene mutation
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ajmg.a.61202
Publisher version: https://doi.org/10.1002/ajmg.a.61202
Language: English
Additional information: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/
Keywords: Brachydactyly, CCNA2-CDK2, Intellectual disability, Retinitis pigmentosa, SCAPER
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10076182
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