Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.T180R
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SLC12A3

NM_001126108.2:p.T180R

Associated Papers

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.

Koca O et al.

Cen Case Reports, 2024

A Case of Gitelman Syndrome that Was Difficult to Distinguish from Hypokalemic Periodic Paralysis Caused by Graves' Disease.

Oba T et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 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."