Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.S188F
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SLC12A3

NM_001126108.2:p.S188F

Associated Papers

Gitelman's Syndrome: characterization of a novel c.1181G>A point mutation and functional classification of the known mutations.

Ravarotto V et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018

Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.

Nandakumar P et al.

Medicine, 2018

30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf
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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."