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Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Human copy number variants (CNVs) account for genome variation an order of magnitude larger than single-nucleotide polymorphisms. Although much of this variation has no phenotypic consequences, some variants have been associated with disease, in particular neurodevelopmental disorders. Pathogenic CN...
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| Vydáno v: | Nat Commun |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5309798/ https://ncbi.nlm.nih.gov/pubmed/28176757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14366 |
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