Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R642Splc
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SLC12A3

NM_001126108.2:p.R642Splc

Associated Papers

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.

Yan MT et al.

Npj Genomic Medicine, 2021

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.

Tseng MH et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."