Genome sequencing reveals the impact of pseudoexons in rare genetic disease
基因组测序揭示了假外显子在罕见遗传病中的作用
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101574
Pitsava, Georgia; Hawley, Megan; Auriga, Light; de Dios, Ivan; Ko, Arthur; Marmolejos, Sofia; Almalvez, Miguel; Chen, Ingrid; Scozzaro, Kaylee; Zhao, Jianhua; Barrick, Rebekah; Ah Mew, Nicholas; Fusaro, Vincent A; LoTempio, Jonathan; Taylor, Matthew; Mestroni, Luisa; Graw, Sharon; Milewicz, Dianna; Guo, Dongchuan; Murdock, David R; Bujakowska, Kinga M; Xiao, Changrui; Délot, Emmanuèle C; Berger, Seth I; Vilain, Eric