Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.S748L
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SLC12A3

NM_001126108.2:p.S748L

Associated Papers

Gitelman syndrome in a pediatric patient: a case report and literature review.

Sun T et al.

Frontiers in Pediatrics, 2025

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.

Zhang L et al.

Frontiers in Pediatrics, 2021

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Lee JW et al.

Journal of Korean Medical Science, 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."