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Journal articles
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
Daniela Di Giacomo
1, 2
Pascaline Gaildrat
2
Anna Abuli
Julie Abdat
2
Thierry Frebourg
2
Mario Tosi
2
Alexandra Martins
2
Thierry Frebourg 2
Author
Mario Tosi 2
Author
Alexandra Martins 2
Author IdHAL : alexandra-martins ORCID : https://orcid.org/0000-0003-4322-8497
1
Department of Experimental Medicine (via Vetoio 1 - 67100 L'Aquila - Italy)
- UNIVAQ - Università degli Studi dell'Aquila (Via Giovanni Di Vincenzo 16/B, 67100 L'Aquila - Italy)
2
GMFC - Génétique du cancer et des maladies neuropsychiatriques (22 Boulevard Gambetta 76183 Rouen Cedex - France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1079 (101, rue de Tolbiac, 75013 Paris - France)
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Journal articles
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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
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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- HAL Id : hal-02336301, version 1
- DOI : 10.1002/humu.22428
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Citation
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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