Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.C42Y
Back to variants list

RPGR

NM_001034853.2:p.C42Y

Associated Papers

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa.

Pusch CM et al.

Human Mutation, 2002

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."