Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.K497*
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SLC12A3

NM_001126108.2:p.K497*

Associated Papers

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Palazzo V et al.

International Journal of Molecular Sciences, 2022

35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.pdf

Gitelman's syndrome and pregnancy: new potential pathophysiological influencing factors, therapeutic approach and materno-fetal outcome.

Calò LA et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2012

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

A thiazide test for the diagnosis of renal tubular hypokalemic disorders.

Colussi G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2007

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Syrén ML et al.

Human Mutation, 2002

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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."