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Global increases in both common and rare copy number load associated with autism

27 Mar 2013

Abstract excerpt

Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been documented. We examined CNV data from 516 individuals with autism or typical development from the population-based Childhood Autism Risks from Genetics and Environment...

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PMID: 23535821
DOI: 10.1093/hmg/ddt136

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