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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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| Опубликовано в: : | Nat Commun |
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| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group UK
2019
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| Предметы: | |
| Online-ссылка: | 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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