GenomicsNature CommunicationsPeer-reviewed
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang…·Clicerio González
The paper systematically studies uORF variants in 15,708 genomes, showing they are under strong negative selection and contribute to disease.
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