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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
Recent research has uncovered a significant role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9246 families with autism spectrum disorder, intellectual disability, or developmental delay, we show ~1/3 of de novo variants are independently observed as standing var...
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| Publicat a: | Nat Genet |
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| Autors principals: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5496244/ https://ncbi.nlm.nih.gov/pubmed/28191890 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3789 |
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