Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.E566delFs
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CLCNKB

NM_000085.5:p.E566delFs

Associated Papers

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.

Zhu B et al.

Bmc Medical Genetics, 2019

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III.

Dong Y et al.

Chinese Medical Journal, 2010

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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."