Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.P109S
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RPE65

NM_000329.3:p.P109S

Associated Papers

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.

Georgiou M et al.

American Journal of Ophthalmology, 2021

Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy.

Habibi I et al.

Scientific Reports, 2017

Identifying mutations in Tunisian families with retinal dystrophy.

Habibi I et al.

Scientific Reports, 2016

[Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with early onset retinal dystrophy and early onset retinitis pigmentosa].

Chouchene I et al.

La Tunisie Medicale, 2015

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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."