Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.I447T
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CLCNKB

NM_000085.5:p.I447T

Associated Papers

Mutation spectrum of Chinese patients with Bartter syndrome.

Han Y et al.

Oncotarget, 2017

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

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Seys E et al.

Journal of the American Society of Nephrology : Jasn, 2017

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."