Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. [electronic resource]
Producer: 20190326Description: 293-303 p. digitalISSN:- 1432-1203
- Alleles
- Amino Acyl-tRNA Synthetases -- genetics
- Atrophy -- genetics
- Child, Preschool
- Gene Expression Regulation, Enzymologic
- Humans
- Infant
- Loss of Function Mutation -- genetics
- Male
- Microcephaly -- genetics
- Pedigree
- RNA, Transfer -- genetics
- RNA-Binding Proteins -- genetics
- Seizures -- genetics
- Transfer RNA Aminoacylation -- genetics
- Valine-tRNA Ligase -- genetics
- Exome Sequencing
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Publication Type: Journal Article
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