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American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
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