Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R871K
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SLC12A3

NM_001126108.2:p.R871K

Associated Papers

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2023

37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1

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

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.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

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

Zhang L et al.

Frontiers in Pediatrics, 2021

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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."