Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.G196V
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SLC12A3

NM_001126108.2:p.G196V

Associated Papers

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

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

Nan J et al.

Science Advances, 2022

36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.

Li N et al.

Frontiers in Genetics, 2022

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

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.

Zeng Y et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.

Yuan T et al.

Endocrine Connections, 2017

Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.

Xia MF et al.

Clinical Case Reports, 2017

Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome.

Shao L et al.

Nephron. Physiology, 2008

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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."