Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.A166V
Back to variants list

SLC12A3

NM_001126108.2:p.A166V

Associated Papers

A Case of Gitelman Syndrome Complicated by Growth Hormone Deficiency.

Lu G et al.

Clinical Laboratory, 2025

Cryo-EM structure of the human sodium-chloride cotransporter NCC.

Nan J et al.

Science Advances, 2022

36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.

Kondo A et al.

Scientific Reports, 2021

34373523 (PubMed )
Supplement: 41598_2021_95521_MOESM1_ESM.pdf

Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements.

Berry MR et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

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."