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The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

P. Gaildrat 1 S. Krieger 2 J.-C. Thery 1 A. Killian 1 A. Rousselin P. Berthet 3 T. Frebourg 4, 1 A. Hardouin 5 A. Martins 1 M. Tosi 1 
1 Caractérisation structurale et fonctionnelle des mutations et des polymorphismes en cancérologie et neuro-psychiatrie
2 BMCS - Biologie moléculaire et cellulaire de la signalisation
3 CHIMSOL - Laboratoire de Physico-Chimie de l'Etat Solide
4 Hôpital Charles Nicolle [Rouen]
5 IBCP - Institut de biologie et chimie des protéines [Lyon]
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02336376
Contributor : Alexandra Martins Connect in order to contact the contributor
Submitted on : Monday, October 28, 2019 - 5:50:54 PM
Last modification on : Saturday, June 25, 2022 - 9:13:17 PM

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P. Gaildrat, S. Krieger, J.-C. Thery, A. Killian, A. Rousselin, et al.. The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.398-403. ⟨10.1136/jmg.2009.074047⟩. ⟨hal-02336376⟩

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