Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.S283S
Back to variants list

GPI

NM_000175.5:p.S283S

Associated Papers

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Wolf MT et al.

Kidney International, 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."