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Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

The roles and characteristics of postzygotic single‐nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASDs) remain unclear. In this study of the whole exomes of 2,361 families in the Simons Simplex Collection, we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children...

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Detalles Bibliográficos
Publicado en:Hum Mutat
Main Authors: Dou, Yanmei, Yang, Xiaoxu, Li, Ziyi, Wang, Sheng, Zhang, Zheng, Ye, Adam Yongxin, Yan, Linlin, Yang, Changhong, Wu, Qixi, Li, Jiarui, Zhao, Boxun, Huang, August Yue, Wei, Liping
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518181/
https://ncbi.nlm.nih.gov/pubmed/28503910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23255
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