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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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| Veröffentlicht in: | Nat Commun |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group UK
2019
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| Schlagworte: | |
| Online Zugang: | 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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