Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Y143D
Back to variants list

RPE65

NM_000329.3:p.Y143D

Associated Papers

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Abdul R et al.

Investigative Ophthalmology & Visual Science, 2025

40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Evaluation_of_strategy_

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Sundaresan P et al.

Molecular Vision, 2009

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."