Varaico: Literature-Extracted Genetic Variants

Gene:RD3
Variant:p.Y60*
Back to variants list

RD3

NM_001164688.2:p.Y60*

Associated Papers

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Weisschuh N et al.

Plos One, 2018

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Preising MN et al.

Investigative Ophthalmology & Visual Science, 2012

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."