Associated Papers
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.
Aynekin B et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2026
VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain.
Hiz S et al.
Turkish Journal of Biology = Turk Biyoloji Dergisi, 2022
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
Friedman J et al.
Nature Communications, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A et al.
Nature Communications, 2019
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
McLachlan F et al.
Human Mutation, 2019
Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature.
Okur V et al.
Cold Spring Harbor Molecular Case Studies, 2018
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E et al.
Neuron, 2015
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