Ontology highlight
ABSTRACT:
SUBMITTER: Siekierska A
PROVIDER: S-EPMC6372652 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Nature communications 20190212 1
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase (VARS) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. In sil ...[more]