Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.R421_C422insFs
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CHRNE

NM_000080.4:p.R421_C422insFs

Associated Papers

Variable phenotypes associated with mutations in DOK7.

Anderson JA et al.

Muscle & Nerve, 2008

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS et al.

Expert Reviews in Molecular Medicine, 2007

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS et al.

Brain : a Journal of Neurology, 2007

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J et al.

Brain : a Journal of Neurology, 2007

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D et al.

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

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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."