De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
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author: Richard Redon, Stéphane Bézieau, Anne-Sophie Denommé-Pichon, Peter-Michael Kloetzel, Brigitte Gilbert-Dussardier, Sébastien Küry, Marie Vincent, Thomas Besnard, Christelle Golzio, Alberto Gómez, Caroline Rooryck, Tomasz Gambin, Valérie Malan, Dominique Bonneau, Annick Toutain, James R. Lupski, Stephan J. Sanders, Laurent Pasquier, Yaping Yang, Evan E. Eichler, Paweł Stankiewicz, Marie-Line Jacquemont, Deborah Barbouth, Frédéric Ebstein, Kimberly Glaser, Wallid Deb, Stephanie Sacharow, Jill A Rosenfeld, Benjamin Cogné, Laurence Perrin-Sabourin, Xénia Latypova, Nicholas Katsanis, Carlos A Bacino
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