De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Titel:
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Auteur:
Shashi, Vandana Pena, Loren D.M. Kim, Katherine Burton, Barbara Hempel, Maja Schoch, Kelly Walkiewicz, Magdalena McLaughlin, Heather M. Cho, Megan Stong, Nicholas Hickey, Scott E. Shuss, Christine M. Freemark, Michael S. Bellet, Jane S. Keels, Martha Ann Bonner, Melanie J. El-Dairi, Maysantoine Butler, Megan Kranz, Peter G. Stumpel, Constance T.R.M. Klinkenberg, Sylvia Oberndorff, Karin Alawi, Malik Santer, Rene Petrovski, Slavé Kuismin, Outi Korpi-Heikkilä, Satu Pietilainen, Olli Aarno, Palotie Kurki, Mitja I. Hoischen, Alexander Need, Anna C. Goldstein, David B. Kortüm, Fanny