RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
RNA测序为以往无法确诊的罕见病病例提供了功能性见解和诊断依据。
期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-025-02227-z
Lewis, Robert G; O'Shea, John M; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J; Boyden, Steven E; Ward, Alistair; Baldwin, Erin E; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C; Bleyl, Steven B; Butterfield, Russell J; Taliercio, Vanina; Botto, Lorenzo D; Mao, Rong; Bayrak-Toydemir, Pinar
