Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C213F
Back to variants list

PRPH2

NM_000322.5:p.C213F

Associated Papers

Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.

Ikelle L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Peeters MHCA et al.

Human Mutation, 2021

High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

Gamundi MJ et al.

Molecular Vision, 2007

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."