Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.P216L
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CLCNKB

NM_000085.5:p.P216L

Associated Papers

ClC-K Kidney Chloride Channels: From Structure to Pathology.

Andrini O et al.

Handbook of Experimental Pharmacology, 2024

Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.

Bignon Y et al.

Human Mutation, 2020

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

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Li L et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

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

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

Genetic basis of Bartter syndrome in Korea.

Lee BH et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012

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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."