학술논문
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
Document Type
Journal
Author
Fazal, Sarah; Danzi, Matt C.; van Kuilenburg, Andre B. P.; Reich, Selina; Traschutz, Andreas; Bender, Benjamin; Leen, Rene; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R.; van Karnebeek, Clara D. M.; Ferreira, Carlos R.; D'Sousa, Precilla; Tekin, Mustafa; Zuchner, Stephan; Synofzik, Matthis
Source
Subject
Language
English
ISSN
14602083