Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disr...
Main Authors: | , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2020-05-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-019-10717-9 |