Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.R399_A401insFs
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SLC12A3

NM_001126108.2:p.R399_A401insFs

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

Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.

Wang L et al.

Acta Biochimica Et Biophysica Sinica, 2015

Relationship between NOX4 level and angiotensin II signaling in Gitelman's syndrome. Implications with hypertension.

Calò LA et al.

International Journal of Clinical and Experimental Medicine, 2015

Increased level of p63RhoGEF and RhoA/Rho kinase activity in hypertensive patients.

Calò LA et al.

Journal of Hypertension, 2014

SIRT1, heme oxygenase-1 and NO-mediated vasodilation in a human model of endogenous angiotensin II type 1 receptor antagonism: implications for hypertension.

Davis PA et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2013

Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements.

Berry MR et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

A pseudo-dominant form of Gitelman's syndrome.

de La Faille R et al.

Ndt Plus, 2011

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.

Syrén ML et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011

Myocardial perfusion defects in Bartter and Gitelman syndromes.

Scognamiglio R et al.

European Journal of Clinical Investigation, 2008

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

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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."