Reanalysis of whole genome sequencing ends a diagnostic Odyssey of neurodevelopmental disorders caused by RNU4-2 variants.
作者信息
Fan Shiqi, Yang Shuanghao, Sun Miao, Gu Weiyue, Zhang Xue
机构信息
State Key Laboratory for Complex Severe and Rare Diseases, Peking Union Medical College Hospital & Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.
McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 1000005, China.
出版信息
Sci China Life Sci. 2025 Apr;68(4):1194-1196. doi: 10.1007/s11427-024-2829-2. Epub 2025 Feb 17.
PMID:39969744
Abstract
摘要
Zotero 插件