Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.T392I
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SLC12A3

NM_001126108.2:p.T392I

Associated Papers

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

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.

Zhang JH et al.

Biomed Research International, 2021

Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine.

Luo JW et al.

Chinese Journal of Integrative Medicine, 2017

New SLC12A3 disease causative mutation of Gitelman's syndrome.

Grillone T et al.

World Journal of Nephrology, 2016

Renal phosphate handling in Gitelman syndrome--the results of a case-control study.

Viganò C et al.

Pediatric Nephrology (berlin, Germany), 2013

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Glaudemans B et al.

European Journal of Human Genetics : Ejhg, 2012

Early appearance of hypokalemia in Gitelman syndrome.

Tammaro F et al.

Pediatric Nephrology (berlin, Germany), 2010

A thiazide test for the diagnosis of renal tubular hypokalemic disorders.

Colussi G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 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."