De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

מאת Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hölker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan, Wirth, Brunhilde
הוצא לאור ב Am J Hum Genet (2020)