Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.N217K
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ACHE

NM_000665.5:p.N217K

Associated Papers

Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity.

Zayas R et al.

Synapse (new York, N.y.), 2006

Focal caspase activation underlies the endplate myopathy in slow-channel syndrome.

Vohra BP et al.

Annals of Neurology, 2004

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

Engel AG et al.

Human Molecular Genetics, 1996

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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."