Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.L884F
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CLCN1

NM_000083.3:p.L884F

Associated Papers

Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics.

Cheng W et al.

Plos One, 2014

Novel chloride channel mutations leading to mild myotonia among Chinese.

Burgunder JM et al.

Neuromuscular Disorders : Nmd, 2008

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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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."