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Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
Mosaic genetic variants can have major clinical impact. We systematically analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosaicism (PZM) in the child or a clinically-unaffected parent, and use ultrahigh-depth seq...
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| 出版年: | Nat Commun |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6611863/ https://ncbi.nlm.nih.gov/pubmed/31278258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-11059-2 |
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