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Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia 由 Marin-Valencia, I, Gerondopoulos, A, Zaki, MS, Ben-Omran, T, Almureikhi, M, Demir, E, Guemez-Gamboa, A, Gregor, A, Issa, MY, Appelhof, B, Roosing, S, Musaev, D, Rosti, B, Wirth, S, Stanley, V, Baas, F, Barr, FA, Gleeson, JG
出版 2017Journal article