Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.G619D
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SLC12A3

NM_001126108.2:p.G619D

Associated Papers

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.

Ma J et al.

American Journal of Nephrology, 2016

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