Article

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

2022-09-23

Abstract excerpt

<h4>ABSTRACT</h4> DRG1 is a highly conserved member of a class of GTPases implicated in ribosome biogenesis and translation. The expression of mammalian DRG1 is elevated in the central nervous system during development, and its function has been implicated in fundamental cellular processes including protein synthesis and cellular proliferation. Using exome sequencing, we identified rare and likely pathogenic germl...

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Literature Corpus work: 5b15919c-0cef-5197-99a5-1affc5866ddd
DOI: 10.1101/2022.09.20.22279914

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