Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.G439V
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SLC12A3

NM_001126108.2:p.G439V

Associated Papers

Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.

Fang D et al.

Frontiers in Genetics, 2024

Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.

Zhang X et al.

Clinical Genetics, 2022

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

Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.

Shen Q et al.

Clinical Genetics, 2021

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

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

Xia MF et al.

Clinical Case Reports, 2017

Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.

Wang L et al.

Acta Biochimica Et Biophysica Sinica, 2015

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.

Qin L et al.

Nephrology (carlton, Vic.), 2009

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."