AURELIO
HERNÁNDEZ LAÍN
Profesor asociado de Ciencias de la Salud
Universitat Pompeu Fabra
Barcelona, EspañaPublications in collaboration with researchers from Universitat Pompeu Fabra (1)
2024
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Journal of Human Genetics, Vol. 69, Núm. 5, pp. 187-196