Last Updated: 09/26/2026
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Found 2 publications
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Journal: American journal of human genetics
Published: March 09, 2019
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Journal: Molecular genetics and metabolism
Published: November 30, 2011
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Last Updated: 09/26/2026