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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay,

Danni Jin1, Sheree A Wek2, Ricardo A Cordova2

  • 1Department of Chemistry and Biochemistry, Center for RNA Biology, Ohio State University, Columbus, Ohio, USA.

Clinical Genetics
|November 22, 2022
PubMed

Keywords:
EPRS1aminoacyl-tRNA synthetaseaminoacylationexome sequencingintegrated stress responseleukodystrophypsychomotor developmental delaytRNA

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