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

Published 2016 View Full Article

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Title
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Authors
Keywords
ASXL2, macrocephaly, whole-exome sequencing, developmental delay, intellectual disability, glabellar nevus flammeus
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 99, Issue 4, Pages 991-999
Publisher
Elsevier BV
Online
2016-10-02
DOI
10.1016/j.ajhg.2016.08.017

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