Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.R199G
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SLC12A1

NM_000338.3:p.R199G

Associated Papers

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R et al.

American Journal of Human Genetics, 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."