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Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

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https://hal-normandie-univ.archives-ouvertes.fr/hal-02336301
Contributor : Alexandra Martins <>
Submitted on : Monday, October 28, 2019 - 5:18:37 PM
Last modification on : Monday, October 19, 2020 - 8:26:03 PM

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Daniela Di Giacomo, Pascaline Gaildrat, Anna Abuli, Julie Abdat, Thierry Frebourg, et al.. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements. Human Mutation, Wiley, 2013, 34 (11), pp.1547-1557. ⟨10.1002/humu.22428⟩. ⟨hal-02336301⟩

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