Associated Papers
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2024
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Beeson D et al.
Annals of the New York Academy of Sciences, 2008
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
Ohno K et al.
Journal of Medical Genetics, 2004
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