Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
对 8040 名未确诊的罕见病患者进行系统性致病启动子和非翻译区变异的鉴定
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01464-2
Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Candler, Toby; Firth, Helen; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola
