Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.R838L
Back to variants list

GUCY2D

NM_000180.4:p.R838L

Associated Papers

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

Kitiratschky VB et al.

Investigative Ophthalmology & Visual Science, 2008

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.

Wilkie SE et al.

Human Molecular Genetics, 2000

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."