Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. [electronic resource]
Producer: 20180618Description: 1774-1785 p. digitalISSN:- 1098-1004
- Amino Acid Sequence
- Cohort Studies
- DNA-Binding Proteins
- Exome -- genetics
- Humans
- Intellectual Disability -- genetics
- Mutation
- Neurodevelopmental Disorders -- genetics
- Nuclear Proteins -- genetics
- Phenotype
- Promoter Regions, Genetic -- genetics
- Sequence Alignment
- Transcription Factors -- genetics
- Whole Genome Sequencing
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Publication Type: Journal Article
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