Lin, Siying;
Webster, Andrew;
(2024)
Unveiling hidden genetic complexity: coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy.
American Journal of Medical Genetics Part A
10.1002/ajmg.a.63805.
(In press).
Text
Lin_Unveiling hidden genetic complexity_AAM.pdf Access restricted to UCL open access staff until 11 July 2025. Download (939kB) |
Type: | Article |
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Title: | Unveiling hidden genetic complexity: coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy |
DOI: | 10.1002/ajmg.a.63805 |
Publisher version: | https://doi.org/10.1002/ajmg.a.63805 |
Language: | English |
Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
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/10194416 |
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