Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R507C
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SLC12A3

NM_001126108.2:p.R507C

Associated Papers

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

Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study.

Alexandru M et al.

Journal of Clinical Medicine, 2020

33238651 (PubMed )
Supplement: jcm-09-03790-s001.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

Spectrum of mutations in Gitelman syndrome.

Vargas-Poussou R et al.

Journal of the American Society of Nephrology : Jasn, 2011

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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."