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

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

20

Citations

18

References

2007

Year

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

Neuromuscular Disorders

Mendelian DisorderAberrant SplicingGenetic DisorderGeneticsSynonymous Chrne MutationMolecular BiologyMolecular GeneticsDisease Gene IdentificationCongenital Myasthenic SyndromeMedicineClinical Genetics

References

	Year	Citations

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