Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.A370P
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SLC12A3

NM_001126108.2:p.A370P

Associated Papers

Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.

Shi X et al.

Human Genomics, 2025

41057907 (PubMed )
Supplement: 40246_2025_828_MOESM1_ESM.pdf

Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.

Xun Z et al.

International Journal of General Medicine, 2023

The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.

Yin Y et al.

Frontiers in Endocrinology, 2023

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

Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.

Shen Q et al.

Clinical Genetics, 2021

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

Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.

Yuan T et al.

Endocrine Connections, 2017

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

Xia MF et al.

Clinical Case Reports, 2017

Mutation profile and treatment of Gitelman syndrome in Chinese patients.

Wang F et al.

Clinical and Experimental Nephrology, 2017

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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."