De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

标题
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 103, Issue 5, Pages 666-678
出版商
Elsevier BV
发表日期
2018-10-18
DOI
10.1016/j.ajhg.2018.09.006

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