Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
作者： Elaine T Lim , Mohammed Uddin , Silvia De Rubeis , Yingleong Chan , Anne S Kamumbu
DOI: 10.1038/NN.4598
关键词: Epigenetics of autism 、 Genetic variation 、 Genetics 、 Heritability of autism 、 Mutation 、 Nonsynonymous substitution 、 Autism spectrum disorder 、 Proband 、 Biology 、 Gene
摘要: We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available …
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