Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.E78delFs
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SLC12A3

NM_001126108.2:p.E78delFs

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

Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.

Zhong F et al.

Journal of Endocrinological Investigation, 2019

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

Xia MF et al.

Clinical Case Reports, 2017

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.

Li C et al.

Clinical Endocrinology, 2015

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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."