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

dc.contributor.author	Reich, Selina
dc.contributor.author	Bender, Benjamin
dc.contributor.author	Synofzik, Matthis
dc.contributor.author	Traschütz, Andreas
dc.date.accessioned	2023-10-31T07:05:42Z
dc.date.available	2023-10-31T07:05:42Z
dc.date.issued	2023
dc.identifier.issn	0964-6906
dc.identifier.uri	http://hdl.handle.net/10900/146967
dc.language.iso	en	de_DE
dc.publisher	Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/hmg/ddac173	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230619000000_02105
utue.publikation.seiten	46-54	de_DE
utue.personen.roh	Fazal, Sarah
utue.personen.roh	Danzi, Matt C.
utue.personen.roh	van Kuilenburg, Andre B. P.
utue.personen.roh	Reich, Selina
utue.personen.roh	Traschutz, Andreas
utue.personen.roh	Bender, Benjamin
utue.personen.roh	Leen, Rene
utue.personen.roh	Toro, Camilo
utue.personen.roh	Usdin, Karen
utue.personen.roh	Hayward, Bruce
utue.personen.roh	Adams, David R.
utue.personen.roh	van Karnebeek, Clara D. M.
utue.personen.roh	Ferreira, Carlos R.
utue.personen.roh	D'Sousa, Precilla
utue.personen.roh	Tekin, Mustafa
utue.personen.roh	Zuchner, Stephan
utue.personen.roh	Synofzik, Matthis
dcterms.isPartOf.ZSTitelID	Human Molecular Genetics	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	32	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE