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Patterns and Rates of Exonic De Novo Mutations in Autism Spectrum Disorders
Published April 4, 2012
in Nature
Results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613847/
Filed under: Autism News, Autism Research, Autism Science, Genetics, Genomics