Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.H47fs
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SLC12A3

NM_001126108.2:p.H47fs

Associated Papers

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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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."