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American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.Pageof 4