Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.N359K
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SLC12A3

NM_001126108.2:p.N359K

Associated Papers

Refractory hypercalcemic crisis: A case of primary hyperparathyroidism with Gitelman syndrome.

Yuan M et al.

The Journal of International Medical Research, 2025

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

Shi X et al.

Human Genomics, 2025

Pregnancy complicated with Gitelman syndrome: A case report and literature review.

Zhang L et al.

Medicine, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.

Koca O et al.

Cen Case Reports, 2024

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.

Xu J et al.

Bmc Nephrology, 2023

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review.

Cao Y et al.

Case Reports in Perinatal Medicine, 2023

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

Nan J et al.

Science Advances, 2022

36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf

Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.

Qin YZ et al.

World Journal of Clinical Cases, 2022

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

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.

Wang F et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.

Kondo A et al.

Scientific Reports, 2021

34373523 (PubMed )
Supplement: 41598_2021_95521_MOESM1_ESM.pdf

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 Gitelman Syndrome: Co-existence with Hyperthyroidism in a Two-year-old Boy.

Yu S et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2021

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.

Zhang L et al.

Frontiers in Pediatrics, 2021

Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.

Umene R et al.

Cen Case Reports, 2020

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.

Dong B et al.

Bmc Nephrology, 2020

Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.

He G et al.

Medicine, 2020

Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review.

Li X et al.

Case Reports in Medicine, 2020

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

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome.

Kong Y et al.

Bmc Pediatrics, 2019

Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine.

Luo JW et al.

Chinese Journal of Integrative Medicine, 2017

Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.

Yuan T et al.

Endocrine Connections, 2017

Mutation profile and treatment of Gitelman syndrome in Chinese patients.

Wang F et al.

Clinical and Experimental Nephrology, 2017

Clinical and genetic analyses of Chinese patients with Gitelman syndrome.

Miao M et al.

Genetics and Molecular Research : Gmr, 2016

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Lee JW et al.

Journal of Korean Medical Science, 2016

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.

Qin L et al.

Nephrology (carlton, Vic.), 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."