Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

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

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

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

Tübinger Autor(en):

Reich, Selina
Bender, Benjamin
Synofzik, Matthis
Traschütz, Andreas

Published in:

Human Molecular Genetics (2023), Bd. 32, H. 1, S. 46-54

Verlagsangabe:

Oxford Univ Press

Language:

English

Full text:

http://dx.doi.org/10.1093/hmg/ddac173

ISSN:

0964-6906