Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R82K
Back to variants list

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

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Han J et al.

Korean Journal of Ophthalmology : Kjo, 2023

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Wu J et al.

Peerj, 2023

37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."