GeneticsThe American Journal of Human GeneticsPeer-reviewed
Exonic mosaic mutations contribute risk for autism spectrum disorder
Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd…·Brian J. O’Roak
The paper investigates exonic mosaic mutations in autism spectrum disorder (ASD) using whole-exome sequencing data from the Simons Simplex Collection, finding significant synonymous SMM burden and enrichment in chromatin modifiers.
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