Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.R438C
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CLCNKA

NM_004070.4:p.R438C

Associated Papers

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.

Hernández NEG et al.

Archives of Medical Research, 2023

In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.

Louet M et al.

Scientific Reports, 2017

[Gitelman´s syndrome as common cause of hypokalemia and hypomagnesemia].

Ryšavá R et al.

Vnitrni Lekarstvi, 2016

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

Genomic epidemiology of blood pressure salt sensitivity.

Kelly TN et al.

Journal of Hypertension, 2012

DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.

Urbanová M et al.

Folia Biologica, 2011

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

Estévez R et al.

Nature, 2001

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.

Simon DB et al.

Nature Genetics, 1997

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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."