Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy
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J. Lacaille | G. Rouleau | N. Matsumoto | F. Hamdan | D. Spiegelman | J. Michaud | H. Saitsu | J. Gauthier | S. Dobrzeniecka | K. Nishiyama | J. Décarie | Sylvia Dobrzeniecka