Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.G630V
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SLC12A3

NM_001126108.2:p.G630V

Associated Papers

Cryo-EM structure of the human sodium-chloride cotransporter NCC.

Nan J et al.

Science Advances, 2022

36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.

Li N et al.

Frontiers in Genetics, 2022

[A novel mutation of the thiazide-sensitive Na-Cl cotransporter gene in a patient with Gitelman's syndrome].

Okada H et al.

Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2010

Gitelman's syndrome: towards genotype-phenotype correlations?

Riveira-Munoz E et al.

Pediatric Nephrology (berlin, Germany), 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

The molecular genetic approach to "Bartter's syndrome".

Károlyi L et al.

Journal of Molecular Medicine (berlin, Germany), 1998

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

Mastroianni N et al.

American Journal of Human Genetics, 1996

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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."