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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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Dettagli Bibliografici
Pubblicato in:Biol Psychiatry
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Accesso online: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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