Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.L141P
Back to variants list

NPHP3

NM_153240.5:p.L141P

Associated Papers

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Olbrich H et al.

Nature Genetics, 2003

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."