Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.G613S
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SLC12A3

NM_001126108.2:p.G613S

Associated Papers

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

36305246 (PubMed )
Supplement: BSR-2022-0977_supp.zip › BSR-2022-0977_suppS3.xlsx › Gene_variants

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

Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.

Nandakumar P et al.

Medicine, 2018

30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf

[A novel mutation of the thiazide-sensitive Na-Cl cotransporter gene in a patient with Gitelman's syndrome].

Okada H et al.

Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2010

Gitelman's syndrome: towards genotype-phenotype correlations?

Riveira-Munoz E et al.

Pediatric Nephrology (berlin, Germany), 2007

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Syrén ML et al.

Human Mutation, 2002

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

Lemmink HH et al.

Kidney International, 1998

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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."