학술논문
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans
Document Type
Journal
Author
Van Bergen, Nicole J.; Bell, Katrina M.; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K.; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J.; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Flagship, Mcri Rare Diseases; Wickramasinghe, Vihandha O.; White, Susan M.; Christodoulou, John
Source
Subject
Language
English
ISSN
14602083