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Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes

BACKGROUND: Variants disruptive to CHD8 are among the most common mutations revealed by exome sequencing in autism spectrum disorder (ASD). Recent work indicates CHD8 plays a role in the regulation of other ASD risk genes. However, it is unclear whether or not a possible shared genetic ontology exte...

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Dades bibliogràfiques
Publicat a:Biol Psychiatry
Autors principals: Beighley, Jennifer S., Hudac, Caitlin M., Arnett, Anne B., Peterson, Jessica L., Gerdts, Jennifer, Wallace, Arianne S., Mefford, Heather C., Hoekzema, Kendra, Turner, Tychele N., O’Roak, Brian J., Eichler, Evan E., Bernier, Raphael A.
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6925323/
https://ncbi.nlm.nih.gov/pubmed/31526516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.biopsych.2019.07.020
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