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Convergence of genes and cellular pathways dysregulated in autism spectrum diso...

Pinto, D; Delaby, E; Merico, D; Barbosa, M; Merikangas, A; Oliveira, G; et al

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectua...

Date: 2014   |   Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
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