Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.C146Y
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RPE65

NM_000329.3:p.C146Y

Associated Papers

Gene therapy outcomes in young patients with RPE65-retinal degeneration.

Stephenson KAJ et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2026

Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature.

Tabbaa T et al.

Ophthalmic Genetics, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."