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...
Main Authors: | Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2017-03-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC5384790?pdf=render |
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