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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants |
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| Authors: | Houdayer Claude Caux-Moncoutier Virginie Krieger Sophie Barrois Michel Bonnet Françoise Bourdon Violaine Bronner Myriam Buisson Monique Coulet Florence Gaildrat Pascaline Lefol Cédrick Léone Mélanie Mazoyer Sylvie Muller Danielle Remenieras Audrey Révillion Françoise Rouleau Etienne Sokolowska Joanna Vert Jean-Philippe Lidereau Rosette Soubrier Florent Sobol Hagay Sevenet Nicolas Bressac-de Paillerets Brigitte Hardouin Agnès Tosi Mario Sinilnikova Olga M Stoppa-Lyonnet Dominique |
| Affiliation: | Service de Génétique, Institut Curie et Université Paris Descartes, Sorbonne Paris Cité, Paris, France. claude.houdayer@curie.net |
| Abstract: | |
| Keywords: | splice prediction BRCA1 BRCA2 VUS variants of unknown significance guidelines |
| 本文献已被 PubMed 等数据库收录！ | |