Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways
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Summary
Genes harboring de novo damaging variants in CMS probands show significant overlap with those in Tourette syndrome, ASD candidate genes, and those in ASD probands with high stereotypy scores, and exploratory biological pathway and gene ontology analysis highlight histone demethylation, organism development, cell motility, glucocorticoid receptor pathway, and ion channel transport.
- Type
- preprint
- Published
- 2019-08-13
- Cited by
- 1
- References
- 89
- Access
- Open access
- OpenAlex
- https://openalex.org/W2967414304
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:202022952
Keywords
Genetics, Candidate gene, Biology, Autism, Gene
References
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