Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.M1insFs
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RPE65

NM_000329.3:p.M1insFs

Associated Papers

Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosis.

Tayyib A et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

Méjécase C et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

32783370 (PubMed )
Supplement: AJMG-184-762-s001.docx

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

Astuti GD et al.

European Journal of Human Genetics : Ejhg, 2016

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