Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.V285V
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CHRNE

NM_000080.4:p.V285V

Associated Papers

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.

Tan JZ et al.

Chinese Medical Journal, 2016

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Richard P et al.

Neuromuscular Disorders : Nmd, 2007

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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."