Skip to Main Content

Paper Details

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
7
2019
CACNA1E, Contractures, Developmental and Epileptic Encephalopathy, Dyskinesias, Macrocephaly

Datasets

Release 1.2