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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Article
Acesso em linha: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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