Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.V185V
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SLC12A1

NM_000338.3:p.V185V

Associated Papers

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis.

Yamazaki H et al.

Pediatric Nephrology (berlin, Germany), 2009

Phenotypic variability in Bartter syndrome type I.

Bettinelli A et al.

Pediatric Nephrology (berlin, Germany), 2000

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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."