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

作者信息

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

出版信息

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004.

DOI:10.1016/j.ajhg.2016.12.004
PMID:28061364
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5223056/
Abstract
摘要

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