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An organismal CNV mutator phenotype restricted to early human development
De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities. We describe a multiple dnCNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional dnCNVs. Thes...
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| Veröffentlicht in: | Cell |
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5407901/ https://ncbi.nlm.nih.gov/pubmed/28235197 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2017.01.037 |
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