Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R82K
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RPE65

NM_000329.3:p.R82K

Associated Papers

Real-world outcomes of Voretigene Neparvovec: a single-centre consecutive case series.

Jalil A et al.

Eye (london, England), 2025

Retinal Structure in RPE65-Associated Retinal Dystrophy.

Kumaran N et al.

Investigative Ophthalmology & Visual Science, 2020

A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.

Kumaran N et al.

Investigative Ophthalmology & Visual Science, 2018

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.

Kumaran N et al.

Investigative Ophthalmology & Visual Science, 2018

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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."