Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.E24insFs
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CHRNA1

NM_000079.4:p.E24insFs

Associated Papers

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

Brugnoni R et al.

Journal of Neurology, 2010

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D et al.

Neuromuscular Disorders : Nmd, 2005

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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."