Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.G32Splc
Back to variants list

RPE65

NM_000329.3:p.G32Splc

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.

Jakobsson C et al.

Klinische Monatsblatter Fur Augenheilkunde, 2014

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."