EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
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author: Michele Giunta, Hanns Lochmüller, David J Elliott, Helen Griffin, Rita Horvath, Angela Pyle, Mauro Santibanez-Korev, Patrick F. Chinnery, Veronika Boczonadi, Jennifer Munkley, Luba Kalaydjieva, Juliane Müller, Ileana Ferrero, Veronika Karcagi, Tuomo M Polvikoski, Markus Schuelke, Orly Elpeleg, Shimon Edvardson, Mojgan Reza
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