Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.R471*
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SLC12A1

NM_000338.3:p.R471*

Associated Papers

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

Umene R et al.

Cen Case Reports, 2020

Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.

Han Y et al.

Endocrine, 2019

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

Nephrocalcinosis and placental findings in neonatal bartter syndrome.

Maruyama H et al.

Ajp Reports, 2013

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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."