Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.R25C
Back to variants list

RP1

NM_006269.2:p.R25C

Associated Papers

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL et al.

Human Mutation, 2014

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Audo I et al.

Orphanet Journal of Rare Diseases, 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."