A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dep...
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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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 unknown. Here we show that a single base change in an ot...
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A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker
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TN_cdi_doaj_primary_oai_doaj_org_article_0f0ac4b4b81348c696127f64ad73d2ae
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0f0ac4b4b81348c696127f64ad73d2ae
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-23980-6
