De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. [electronic resource]
Producer: 20190415Description: 95-104 p. digitalISSN:- 1432-1203
- Amino Acid Sequence
- Asian People -- genetics
- Autistic Disorder -- diagnosis
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 12 -- genetics
- Craniofacial Abnormalities -- diagnosis
- Developmental Disabilities -- diagnosis
- Epilepsy -- diagnosis
- Female
- Genetic Variation
- Histone-Lysine N-Methyltransferase -- genetics
- Humans
- Intellectual Disability -- diagnosis
- Male
- Mutation, Missense
- Pedigree
- Exome Sequencing
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Publication Type: Case Reports; Journal Article
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