Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy

Joshi Stephen, Sheela Nampoothiri, Aditi Banerjee, Nathanial J. Tolman, Josef Martin Penninger, Ullrich Elling, Chukwuma A. Agu, John D. Burke, Kalpana Devadathan, Rajesh Kannan, Yan Huang, Peter J. Steinbach, Susan A. Martinis, William A. Gahl, May Christine V. Malicdan

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Biochemistry, Genetics and Molecular Biology