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CNVs leading to fusion transcripts in individuals with autism spectrum disorder

There is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an alternative mechanism whereby CNVs combine the 5′...

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Detalles Bibliográficos
Autores principales:	Holt, Richard, Sykes, Nuala H, Conceição, Inês C, Cazier, Jean-Baptiste, Anney, Richard JL, Oliveira, Guiomar, Gallagher, Louise, Vicente, Astrid, Monaco, Anthony P, Pagnamenta, Alistair T
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2012
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476715/ https://www.ncbi.nlm.nih.gov/pubmed/22549408 http://dx.doi.org/10.1038/ejhg.2012.73

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