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A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-sca...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174049/ https://www.ncbi.nlm.nih.gov/pubmed/32168371 http://dx.doi.org/10.1093/brain/awaa051 |