Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.P124A
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CLCNKB

NM_000085.5:p.P124A

Associated Papers

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.

Andrini O et al.

Pflugers Archiv : European Journal of Physiology, 2014

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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."