Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.T585T
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CLCNKB

NM_000085.5:p.T585T

Associated Papers

Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome.

Wang C et al.

Frontiers in Genetics, 2020

Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.

Wang C et al.

American Journal of Physiology. Renal Physiology, 2018

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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."