Associated Papers
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
Cotrina-Vinagre FJ et al.
Journal of Human Genetics, 2024
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Salpietro V et al.
Annals of Neurology, 2017
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