Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.G470E
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CLCNKB

NM_000085.5:p.G470E

Associated Papers

Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report.

Liu J et al.

Frontiers in Pediatrics, 2023

Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.

Cheng CJ et al.

The Journal of Physiology, 2017

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

Louet M et al.

Scientific Reports, 2017

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

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.

Chiang WF et al.

Clinical Nephrology, 2014

A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene.

Xiumin W et al.

Iranian Journal of Pediatrics, 2013

Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel.

Lin CM et al.

European Journal of Pediatrics, 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."