Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.C219R
Back to variants list

CLCN5

NM_000084.5:p.C219R

Associated Papers

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.

Grand T et al.

Kidney International, 2009

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."