Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.Q513*
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CLCNKB

NM_000085.5:p.Q513*

Associated Papers

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

Cheng CJ et al.

The Journal of Physiology, 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

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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."