Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
常见多态性和罕见同义变异的累加效应改变了尼曼-匹克病C型双胞胎患者的剪接。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-021-00898-7
Bychkov, Igor; Filatova, Alexandra; Perelman, Grigory; Proshlyakova, Tatiana; Korotkova, Daria; Klyushnikov, Sergey; Karpova, Maria; Tabakov, Vyacheslav; Baydakova, Galina; Ilyushkina, Alexandra; Skoblov, Mikhail; Zakharova, Ekaterina
