Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.N611T
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SLC12A3

NM_001126108.2:p.N611T

Associated Papers

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

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.

Zeng Y et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Gitelman's Syndrome: characterization of a novel c.1181G>A point mutation and functional classification of the known mutations.

Ravarotto V et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018

Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.

Xia MF et al.

Clinical Case Reports, 2017

Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.

Liu T et al.

American Journal of Nephrology, 2016

Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations.

Miao Z et al.

European Journal of Endocrinology, 2009

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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."