Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R896*
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SLC12A3

NM_000339.3:p.R896*

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

Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.

Yang SS et al.

Human Mutation, 2010

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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."