Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N D'Souza, Maria Fernandes, Sarah Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G E L DeGoede, Emily R Anderson, Christopher B Burge, Stephan J Sanders, Jamie Ellingford, Diana BaralleSiddharth Banka, Nicola Whiffin

Research output: Preprint/Working paperPreprint

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Biochemistry, Genetics and Molecular Biology