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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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Detalles Bibliográficos
Publicado en:Biol Psychiatry
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Acceso en liña: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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