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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains 期刊论文
Nature Neuroscience, 2017, 卷号: 20, 期号: 8, 页码: 1043-1051
作者:  Geisheker, Madeleine R.;  Heymann, Gabriel;  Wang, Tianyun;  Coe, Bradley P.;  Turner, Tychele N.
收藏  |  浏览/下载:10/0  |  提交时间:2019/12/03
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders 期刊论文
The American Journal of Human Genetics, 2016, 卷号: 98, 期号: 3, 页码: 541-552
作者:  Stessman, Holly A. F.;  Willemsen, Marjolein H.*;  Fenckova, Michaela;  Penn, Osnat;  Hoischen, Alexander
收藏  |  浏览/下载:9/0  |  提交时间:2019/12/03
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants 期刊论文
NATURE COMMUNICATIONS, 2016, 卷号: 7, 期号: [db:dc_citation_issue]
作者:  Hehir-Kwa, Jayne Y.;  Marschall, Tobias;  Kloosterman, Wigard P.;  Francioli, Laurent C.;  Baaijens, Jasmijn A.
收藏  |  浏览/下载:8/0  |  提交时间:2019/12/02


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