학술논문
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Document Type
Article
Author
Fazal, Sarah; Danzi, Matt C; Kuilenburg, André B P van; Reich, Selina; Traschütz, Andreas; Bender, Benjamin; Leen, René; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R; Karnebeek, Clara D M van; Ferreira, Carlos R; D'Sousa, Precilla; Network, Undiagnosed Diseases; Tekin, Mustafa; Züchner, Stephan; Synofzik, Matthis
Source
Human Molecular Genetics; Jan2023, Vol. 32 Issue 1, p46-54, 9p
Subject
Language
ISSN
09646906