Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.F167L
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CACNA1S

NM_000069.3:p.F167L

Associated Papers

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

Modoni A et al.

Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2011

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Tan SV et al.

Annals of Neurology, 2011

Hereditary nondystrophic myotonias and periodic paralyses.

Lehmann-Horn F et al.

Current Opinion in Neurology, 1995

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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."