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An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and heterogeneous genetic etiology. While a proportion of ASD risk is attributable to common variants, rare copy-number variants (CNVs) and protein-disrupting single-nucleotide variants (SNVs) have been shown to signific...

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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Bacchelli, Elena, Cameli, Cinzia, Viggiano, Marta, Igliozzi, Roberta, Mancini, Alice, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7035424/
https://ncbi.nlm.nih.gov/pubmed/32081867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-59922-3
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