Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.V179D
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SLC12A3

NM_001126108.2:p.V179D

Associated Papers

Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.

Shi X et al.

Human Genomics, 2025

41057907 (PubMed )
Supplement: 40246_2025_828_MOESM1_ESM.pdf

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.

Zhang L et al.

Nephron, 2023

A case of Gitelman syndrome with membranous nephropathy.

Guo X et al.

Bmc Nephrology, 2022

Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report.

Yu RZ et al.

World Journal of Clinical Cases, 2020

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Lee JW et al.

Journal of Korean Medical Science, 2016

Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.

Ma J et al.

American Journal of Nephrology, 2016

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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."