• Media type: E-Article
  • Title: De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
  • Contributor: 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; [...]
  • imprint: Elsevier BV, 2017
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2016.12.004
  • ISSN: 0002-9297
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
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  • Access State: Open Access