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<i>De novo</i>and inherited variants in<i>DDX39B</i>cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

2023-07-16

Abstract excerpt

DDX39B is a member of the DEAD-box family of ATP-dependent RNA helicases. DEAD-box proteins are ubiquitously expressed from yeast to humans and perform essential functions associated with mRNA metabolism. DDX39B is also a crucial component of the TRanscription-EXport (TREX) super protein complex, which recent studies have highlighted the important role of its subunits in neurodevelopmental disorders. Here, we desc...

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Literature Corpus work
789a360d-f308-592c-8e2b-5cdb9c46bc2d
DOI
10.1101/2023.07.15.23292630
Open publication

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<i>De novo</i>and inherited variants in<i>DDX39B</i>cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital HypotoniaDOI 10.1101/2023.07.15.23292630
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