Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.S350L
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SLC12A3

NM_001126108.2:p.S350L

Associated Papers

Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.

Shi X et al.

Human Genomics, 2025

41057907 (PubMed )
Supplement: 40246_2025_828_MOESM1_ESM.pdf

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.

Huseynli B et al.

Turkish Archives of Pediatrics, 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

Mutation profile and treatment of Gitelman syndrome in Chinese patients.

Wang F et al.

Clinical and Experimental Nephrology, 2017

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

Wang L et al.

Acta Biochimica Et Biophysica Sinica, 2015

Gitelman syndrome.

Roser M et al.

Hypertension (dallas, Tex. : 1979), 2009

19349556 (PubMed )
Supplement: 127993-online_supplement.pdf

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

Riveira-Munoz E et al.

Journal of the American Society of Nephrology : Jasn, 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."