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A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker
Many single nucleotide variants (SNVs) associated with human traits and genetic diseases are thought to alter the activity of existing regulatory elements. Some SNVs may also create entirely new regulatory elements which change gene expression, but the mechanism by which they do so is largely unknow...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217497/ https://www.ncbi.nlm.nih.gov/pubmed/34155213 http://dx.doi.org/10.1038/s41467-021-23980-6 |