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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

INTRODUCTION: The underlying pathogenic mechanism of a large fraction of DNA variants of disease-causing genes is the disruption of the splicing process. We aimed to investigate the effect on splicing of the BRCA2 variants c.8488-1G > A (exon 20) and c.9026_9030del (exon 23), as well as 41 BRCA2...

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Detalles Bibliográficos
Autores principales:	Acedo, Alberto, Sanz, David J, Durán, Mercedes, Infante, Mar, Pérez-Cabornero, Lucía, Miner, Cristina, Velasco, Eladio A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446350/ https://www.ncbi.nlm.nih.gov/pubmed/22632462 http://dx.doi.org/10.1186/bcr3202

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