Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.S12A
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CLCNKB

NM_000085.5:p.S12A

Associated Papers

Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy.

Le BT et al.

Bmj Case Reports, 2020

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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."