Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R515delFs
Back to variants list

RPE65

NM_000329.3:p.R515delFs

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 › Assessment

PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.

Bianco L et al.

Investigative Ophthalmology & Visual Science, 2025

40261664 (PubMed )
Supplement: iovs-66-4-61_s002.pdf
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."