Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.M1insFs
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SLC12A3

NM_001126108.2:p.M1insFs

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

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

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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."