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  1. Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Geist Hauserman, Janelle; Cummings, Beryl B; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S; Ghosh, Partha S; Monaghan, Kristin G; Edassery, Seby L; Ferle, Pia E; Silverstein, Sarah; Chao, Katherine R; Snyder, Molly; Ellingwood, Sara; Bharucha‐Goebel, Diana; Iannaccone, Susan T; Dal Peraro, Matteo; Foley, A Reghan; [...]

    BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

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    Springer Science and Business Media LLC, 2021

    Published in: EMBO Molecular Medicine, 13 (2021) 12