Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.S52N
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CHRNE

NM_000080.4:p.S52N

Associated Papers

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

Müller JS et al.

Expert Reviews in Molecular Medicine, 2007

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."