Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.A221A
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CLCN1

NM_000083.3:p.A221A

Associated Papers

A retrospective study of accuracy and usefulness of electrophysiological exercise tests.

Periviita V et al.

Journal of Neurology, 2024

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

Pusch M

Human Mutation, 2002

Myotonia in ion channel diseases of muscle.

Partanen J et al.

Duodecim; Laaketieteellinen Aikakauskirja, 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."