Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K154N
Back to variants list

RPE65

NM_000329.3:p.K154N

Associated Papers

Relatively preserved retinal function in RPE65-associated retinopathy: a case report.

Mizobuchi K et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2025

Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.

Antropoli A et al.

Progress in Retinal and Eye Research, 2025

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

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."