Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.R557C
Back to variants list

CEP290

NM_025114.4:p.R557C

Associated Papers

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y et al.

Molecular Vision, 2015

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."