Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R145H
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SLC12A3

NM_001126108.2:p.R145H

Associated Papers

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

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

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.

Fava C et al.

Dna Sequence : the Journal of Dna Sequencing and Mapping, 2007

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

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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."