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De novo genic mutations among a Chinese autism spectrum disorder cohort

Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in...

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Publié dans:Nat Commun
Auteurs principaux: Wang, Tianyun, Guo, Hui, Xiong, Bo, Stessman, Holly A.F., Wu, Huidan, Coe, Bradley P., Turner, Tychele N., Liu, Yanling, Zhao, Wenjing, Hoekzema, Kendra, Vives, Laura, Xia, Lu, Tang, Meina, Ou, Jianjun, Chen, Biyuan, Shen, Yidong, Xun, Guanglei, Long, Min, Lin, Janice, Kronenberg, Zev N., Peng, Yu, Bai, Ting, Li, Honghui, Ke, Xiaoyan, Hu, Zhengmao, Zhao, Jingping, Zou, Xiaobing, Xia, Kun, Eichler, Evan E.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5105161/
https://ncbi.nlm.nih.gov/pubmed/27824329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms13316
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