Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.L892P
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SLC12A3

NM_000339.3:p.L892P

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 Analysis in 67 Chinese Patients with Gitelman's Syndrome.

Liu T et al.

American Journal of Nephrology, 2016

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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."