Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.I162_A164Fs
Back to variants list

SLC12A3

NM_001126108.2:p.I162_A164Fs

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 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

Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.

Xie R et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2022

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

Zhong F et al.

Journal of Endocrinological Investigation, 2019

Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.

Ma J et al.

American Journal of Nephrology, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."