Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.S628S
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SLC12A3

NM_001126108.2:p.S628S

Associated Papers

Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.

Tomás-Simó P et al.

Nephrology (carlton, Vic.), 2025

Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.

Brugnara M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

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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."