Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S41N
Back to variants list

RPE65

NM_000329.3:p.S41N

Associated Papers

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.

Srikrupa NN et al.

Clinical Genetics, 2018

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."