Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.H47delFs
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SLC12A3

NM_001126108.2:p.H47delFs

Associated Papers

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

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus.

Iio K et al.

Cen Case Reports, 2022

Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.

Mori T et al.

Human Mutation, 2021

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