Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.L463S
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SLC12A1

NM_000338.3:p.L463S

Associated Papers

[Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ].

Sha YG et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

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

Han Y et al.

Endocrine, 2019

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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."