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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: talbot martin j. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. PMID: 37745552 Free PMC article. Preprint.