Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R653T
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CLCN2

NM_004366.6:p.R653T

Associated Papers

Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.

Ma T et al.

Nature Communications, 2023

CLC channel function and dysfunction in health and disease.

Stölting G et al.

Frontiers in Physiology, 2014

Regulation of ClC-2 gating by intracellular ATP.

Stölting G et al.

Pflugers Archiv : European Journal of Physiology, 2013

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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."