Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome

Mariette Renaux-Petel 1, 2 Francoise Charbonnier 1, 2 Jean-Christophe Thery 1, 2 Pierre Fermey 2, 1 Gwendoline Lienard 1, 2 Jacqueline Bou 1, 2 Sophie Coutant 1, 2 Myriam Vezain 1, 2 Edwige Kasper 1, 2 Steeve Fourneaux 1, 2 Sandrine Manase 1, 2 Maud Blanluet 1, 2 Bruno Leheup 3 Ludovic Mansuy 4 Jacqueline Champigneulle 5 Céline Chappe 6 Michel Longy 7 Nicolas Sevenet 8 Brigitte Bressac-De Paillerets Léa Guerrini-Rousseau 9 Laurence Brugières 9 Olivier Caron 10 Jean-Christophe Sabourin 2, 11 Isabelle Tournier 2, 1 Stéphanie Baert-Desurmont 2, 1 Thierry Frébourg 2, 1 Gaëlle Bougeard 1, 2
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Submitted on : Friday, November 8, 2019 - 1:33:05 PM
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Mariette Renaux-Petel, Francoise Charbonnier, Jean-Christophe Thery, Pierre Fermey, Gwendoline Lienard, et al.. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. Journal of Medical Genetics, BMJ Publishing Group, 2018, pp.jmedgenet-2017-104976. ⟨10.1136/jmedgenet-2017-104976⟩. ⟨hal-02355680⟩

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