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Prevalence and architecture of de novo mutations in developmental disorders
Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with another 3,287 individuals with similar disorders. W...
| Formato: | Online Artículo Texto |
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| Lenguaje: | English |
| Publicado: |
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016744/ https://www.ncbi.nlm.nih.gov/pubmed/28135719 http://dx.doi.org/10.1038/nature21062 |