来源:《Journal of Genetics and Genomics》2019年第05期  作者:Wenjing Zhao;Jieqiong Tan;Tengfei Zhu;Jianjun Ou;Ying Li;Lu Shen;Huidan Wu;Lin Han;Yanling Liu;Xiangbin Jia;Ting Bai;Honghui Li;Xiaoyan Ke;Jingping Zhao;Xiaobing Zou;Zhengmao Hu;Hui Guo;Kun Xia;
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Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development

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Excess de novo likely gene-disruptive and missense variants within dozens of genes have been identified in autism spectrum disorder(ASD) and other neurodevelopmental disorders. However, many rare inherited missense variants of these high-risk genes have not been thoroughly evaluated. In this study,we analyzed the rare missense variant burden of POGZ in a large cohort of ASD patients from the Autism Clinical and Genetic Resources in China(ACGC) and further dissected the functional effect of disea(本文共计11页)......[继续阅读本文]

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