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  • These findings support the more general hypothesis of multiple rare genomic events (SNPs, CNVs, other structural changes) influencing risk for a common disease.51???53High-penetrance CNVs like those on 1q and 15q have effects such as mental retardation and/or autism, consistent with the observation that they reduce fertility and thus are usually de novo mutations rather than transmitted in familie
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  • pubmedcentralcanada.ca