Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R54C
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SLC12A3

NM_001126108.2:p.R54C

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

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

Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome.

Balavoine AS et al.

European Journal of Endocrinology, 2011

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