Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic varian...

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Detalles Bibliográficos
Autores principales: Fraile-Bethencourt, Eugenia, Díez-Gómez, Beatriz, Velásquez-Zapata, Valeria, Acedo, Alberto, Sanz, David J., Velasco, Eladio A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384790/
https://www.ncbi.nlm.nih.gov/pubmed/28339459
http://dx.doi.org/10.1371/journal.pgen.1006691

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384790/
https://www.ncbi.nlm.nih.gov/pubmed/28339459
http://dx.doi.org/10.1371/journal.pgen.1006691

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