Childhood-onset epileptic encephalopathy due to exon 1-4 tandem duplication.
作者信息
Verheyen Sarah, Speicher Michael R, Ramler Barbara, Plecko Barbara
机构信息
Institute of Human Genetics (S.V., M.R.S., B.R.), Diagnostic and Research Center for MolecularBioMedicine, Medical University of Graz; and Department of Pediatrics and Adolescent Medicine (B.P.), Division of General Pediatrics, Medical University of Graz, Austria.
出版信息
Neurol Genet. 2020 Jul 17;6(5):e494. doi: 10.1212/NXG.0000000000000494. eCollection 2020 Oct.
Abstract
摘要
Zotero 插件