Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.G120V
Back to variants list

CLCNKB

NM_000085.5:p.G120V

Associated Papers

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.

Han Y et al.

Endocrine, 2020

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

Genetic basis of Bartter syndrome in Korea.

Lee BH et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012

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."