Patterns and rates of exotic de novo mutations in autism spectrum disorders

Benjamin M. Neale, et al., Patterns and rates of exotic de novo mutations in autism spectrum disorders, doi:10.1038/nature11011

The small increase in the rate of de novo events, when taken together with the protein interaction results, are consistent with an important but limited role for de novo point mutations in ASD, similar to that documented for de novo copy number variants.

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

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