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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...

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Publicat a:Mol Psychiatry
Autors principals: Savova, Virginia, Vinogradova, Svetlana, Pruss, Danielle, Gimelbrant, Alexander A., Weiss, Lauren A.
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5589474/
https://ncbi.nlm.nih.gov/pubmed/28265118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mp.2017.13
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