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

First Author  Helbig KL Year  2018
Journal  Am J Hum Genet Volume  103
Issue  5 Pages  666-678
PubMed ID  30343943 Mgi Id 
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