De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. [electronic resource]
Producer: 20200727Description: 717-725 p. digitalISSN:- 1537-6605
- Adult
- Amino Acid Sequence
- Animals
- Brain Diseases -- genetics
- Child, Preschool
- Cyclin-Dependent Kinase 8 -- deficiency
- Cyclin-Dependent Kinases -- genetics
- Drosophila Proteins -- deficiency
- Drosophila melanogaster -- genetics
- Epilepsy, Generalized -- genetics
- Female
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability -- genetics
- Male
- Mutation, Missense -- genetics
- Neuromuscular Junction
- Rare Diseases -- genetics
- Seizures -- genetics
- Syndrome
- Young Adult
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.