Skip to main content

1 Result(s)

within Desiree E. Smith Remove this filter

and

  1. Article

    Open Access

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessi...

    Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa… in Nature Communications (2019)

    Download PDF (1464 KB) View Article