Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.L845delFs
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SLC12A3

NM_001126108.2:p.L845delFs

Associated Papers

Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.

Umene R et al.

Cen Case Reports, 2020

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.

Bettinelli A et al.

Pediatric Research, 2005

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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."