Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.Q165L
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SLC12A3

NM_001126108.2:p.Q165L

Associated Papers

Genotype-phenotype correlations in children with Gitelman syndrome.

Cho MH et al.

Clinical and Experimental Nephrology, 2024

Gitelman syndrome combined with complete growth hormone deficiency.

Min SR et al.

Annals of Pediatric Endocrinology & Metabolism, 2013

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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."