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Unveiling hidden genetic complexity: coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy

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). Green open access

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Type: Article
Title: Unveiling hidden genetic complexity: coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy
Open access status: An open access version is available from UCL Discovery
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-pp.ucl.ac.uk/id/eprint/10194416
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