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Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders
Over 3,000 human genes can be expressed from a single allele in one cell, and from the other allele – or both – in neighboring cells. Little is known about the consequences of this epigenetic phenomenon, monoallelic expression (MAE). We hypothesized that MAE increases expression variability, with po...
Autores principales: | Savova, Virginia, Vinogradova, Svetlana, Pruss, Danielle, Gimelbrant, Alexander A., Weiss, Lauren A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589474/ https://www.ncbi.nlm.nih.gov/pubmed/28265118 http://dx.doi.org/10.1038/mp.2017.13 |
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