Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R861H
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SLC12A3

NM_000339.3:p.R861H

Associated Papers

Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.

Yang L et al.

Medicine, 2023

Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.

Xu J et al.

Bmc Nephrology, 2023

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

Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.

Mori T et al.

Human Mutation, 2021

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report.

Wang CL

World Journal of Clinical Cases, 2019

Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review.

Zhou H et al.

Bmc Endocrine Disorders, 2018

Mutation profile and treatment of Gitelman syndrome in Chinese patients.

Wang F et al.

Clinical and Experimental Nephrology, 2017

[Establishment of genetic testing for Gitelman's syndrome].

Nakayama T et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2010

Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.

Aoi N et al.

Endocrine, 2007

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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."