Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.N442K
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SLC12A3

NM_001126108.2:p.N442K

Associated Papers

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

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.

Yan MT et al.

Npj Genomic Medicine, 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

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.

Tseng MH et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure.

Hsu YJ et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 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."