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Genomic patterns of de novo mutation in simplex autism
To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource includes >59 million single-nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,...
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| 出版年: | Cell |
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| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5679715/ https://ncbi.nlm.nih.gov/pubmed/28965761 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2017.08.047 |
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