Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.S507P
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SLC12A1

NM_000338.3:p.S507P

Associated Papers

SLC12A cryo-EM: analysis of relevant ion binding sites, structural domains, and amino acids.

Trejo F et al.

American Journal of Physiology. Cell Physiology, 2023

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

The molecular genetic approach to "Bartter's syndrome".

Károlyi L et al.

Journal of Molecular Medicine (berlin, Germany), 1998

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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."