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Repeat expansions nested within tandem CNVs: a unique struc..:
Fazal, Sarah
;
Danzi, Matt C
;
van Kuilenburg, André B P
...
Human Molecular Genetics. 32 (2022) 1 - p. 46-54 , 2022
Link:
https://doi.org/10.1093/hmg/ddac173
RT Journal T1
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddac173&Exemplar=1&LAN=DE A1 Fazal, Sarah A1 Danzi, Matt C A1 van Kuilenburg, André B P A1 Reich, Selina A1 Traschütz, Andreas A1 Bender, Benjamin A1 Leen, René A1 Toro, Camilo A1 Usdin, Karen A1 Hayward, Bruce A1 Adams, David R A1 van Karnebeek, Clara D M A1 Ferreira, Carlos R A1 D'Sousa, Precilla A1 Network, Undiagnosed Diseases A1 Tekin, Mustafa A1 Züchner, Stephan A1 Synofzik, Matthis PB Oxford University Press (OUP) YR 2022 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 32 IS 1 SP 46 OP 54 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddac173 DO https://doi.org/10.1093/hmg/ddac173 SF ELIB - SuUB Bremen
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