De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Published

Journal Article

Full Text

Duke Authors

Cited Authors

  • Shashi, V; Pena, LDM; Kim, K; Burton, B; Hempel, M; Schoch, K; Walkiewicz, M; McLaughlin, HM; Cho, M; Stong, N; Hickey, SE; Shuss, CM; Undiagnosed Diseases Network, ; Freemark, MS; Bellet, JS; Keels, MA; Bonner, MJ; El-Dairi, M; Butler, M; Kranz, PG; Stumpel, CTRM; Klinkenberg, S; Oberndorff, K; Alawi, M; Santer, R; Petrovski, S; Kuismin, O; Korpi-Heikkilä, S; Pietilainen, O; Aarno, P; Kurki, MI; Hoischen, A; Need, AC; Goldstein, DB; Kortüm, F

Duke Contributors

Published Date

  • January 2017

Published In

Volume / Issue

  • 100 / 1

Start / End Page

  • 179 -

PubMed ID

  • 28061364

Pubmed Central ID

  • 28061364

Electronic International Standard Serial Number (EISSN)

  • 1537-6605

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2016.12.004

Language

  • eng