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Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways

2019-08-13

Abstract excerpt

<h4>ABSTRACT</h4> Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing children (“primary” stereotypies, CMS). The precise pathophysiological mechanism for motor stereotypies is unknown, although genetic etiologies have been suggested. In this study, we perform whole-exome DNA sequencing in 129 parent-chi...

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Literature Corpus work
00ec1736-7f13-5d4d-abed-ac707872b486
DOI
10.1101/730952
Open publication

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Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathwaysDOI 10.1101/730952
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