Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families
基因组测序在罕见病中的临床应用:一项纳入1452个韩国家庭的单中心研究的启示
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00538-9
Lee, Seungbok; Seo, Go Hun; Kim, Soo Yeon; Jang, Se Song; Jang, Seoyun; Choi, Songji; Chin, Hyungjin; Lee, Seung Jae; Oh, Dong Eon; Ryu, Seung Woo; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Lim, Byung Chan; Moon, Jangsup; Han, Heonjong; Lee, Hane; Chae, Jong-Hee