Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.S537T
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CLCN1

NM_000083.3:p.S537T

Associated Papers

Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia.

Gaitán-Peñas H et al.

The Journal of Physiology, 2024

Biophysical and Pharmacological Insights to CLC Chloride Channels.

Kwon HC et al.

Handbook of Experimental Pharmacology, 2024

Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.

Estévez R et al.

Neuron, 2003

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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."