Article

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

2017-04-03

Abstract excerpt

Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. We systematically evaluated PMMs by leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection. We found evidence that 11% of published single nucleotide varia...

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Literature Corpus work: c296cf10-d75b-528e-9aa7-dbef8d79b0cd
DOI: 10.1101/083428

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