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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals

Document Type

Journal

Author

Cotrina-Vinagre, Francisco Javier; Rodriguez-Garcia, Maria Elena; del Pozo-Filiu, Lucia; Hernandez-Lain, Aurelio; Arteche-Lopez, Ana; Morte, Beatriz; Sevilla, Marta; Perez-Jurado, Luis Alberto; Quijada-Fraile, Pilar; Camacho, Ana; Martinez-Azorin, Francisco

Source

JOURNAL OF HUMAN GENETICS; FEB 14 2024, 10p.

Subject

Language

English

ISSN

1435232X

Online Access

Web of Science JCR 저널정보 Scopus Find it@PNU

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