Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen, Joshi
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. [electronic resource] - Human genetics Apr 2018 - 293-303 p. digital
Publication Type: Journal Article
1432-1203
10.1007/s00439-018-1882-3 doi
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
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. [electronic resource] - Human genetics Apr 2018 - 293-303 p. digital
Publication Type: Journal Article
1432-1203
10.1007/s00439-018-1882-3 doi
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