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

por 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, Savas, Jeffrey N, Bolduc, Véronique, Fasshauer, Dirk, Bönnemann, Carsten G, Schwake, Michael
Publicado 2021