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EpiDenovo: a platform for linking regulatory de novo mutations to developmental epigenetics and diseases
De novo mutations (DNMs) have been shown to be a major cause of severe early-onset genetic disorders such as autism spectrum disorder and intellectual disability. Over one million DNMs have been identified in developmental disorders by next generation sequencing, but linking these DNMs to the genes...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753195/ https://www.ncbi.nlm.nih.gov/pubmed/29040751 http://dx.doi.org/10.1093/nar/gkx918 |