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

Pascale Richard, Karen Gaudon, Emmanuel Fournier, C. Ellen Jackson, Stéphanie Bauché, Hafedh Haddad, Jeanine Koenig, Bernard Échenne, Daniel Hantaı̈, B. Eymard

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Key concepts: Frameshift mutation, Genetics, Exon, RNA splicing, Biology, Mutation, Splice site mutation, splice

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A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome — Research Paper | ScholarLens