Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

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. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons...

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Опубликовано в: :Am J Hum Genet
Главные авторы: Krupp, Deidre R., Barnard, Rebecca A., Duffourd, Yannis, Evans, Sara A., Mulqueen, Ryan M., Bernier, Raphael, Rivière, Jean-Baptiste, Fombonne, Eric, O’Roak, Brian J.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2017
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5590950/
https://ncbi.nlm.nih.gov/pubmed/28867142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.07.016
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