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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Bibliografische gegevens
Hoofdauteurs: Holt, R, Sykes, N, Conceição, I, Cazier, J, Anney, R, Oliveira, G, Gallagher, L, Vicente, A, Monaco, A, Pagnamenta, A
Formaat: Journal article
Taal:English
Gepubliceerd in: 2012