Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R334Q
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SLC12A3

NM_001126108.2:p.R334Q

Associated Papers

Molecular complexity analysis of the diagnosis of Gitelman syndrome in China.

Song W et al.

Open Life Sciences, 2023

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.

Bekheirnia N et al.

Kidney360, 2021

Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study.

Alexandru M et al.

Journal of Clinical Medicine, 2020

33238651 (PubMed )
Supplement: jcm-09-03790-s001.pdf

Mutation profile and treatment of Gitelman syndrome in Chinese patients.

Wang F et al.

Clinical and Experimental Nephrology, 2017

Integrated Genetic, Epigenetic, and Transcriptional Profiling Identifies Molecular Pathways in the Development of Laterally Spreading Tumors.

Hesson LB et al.

Molecular Cancer Research : Mcr, 2016

27671336 (PubMed )
Supplement: 15417786mcr160175-sup-165857_1_supp_3615939_cbj153.xlsx › WES_2_SNV
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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."