Supplementary Data from Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System
Year: 2023
Type: supplementary-materials
Abstract: Word doc, marked changes. Supp Table of contents, Supp Materials and Methods, Supp Figures S1-S17 (including description of BRCA2 mRNA and protein domains, selection of BRCA2 variants, minigene structure, RNA splicing data versus bioinformatics predictions, minigene results versus patients' RNA and mESC's data, and results from mESC complementation assays), Supp Note and Supp Reference
Authors: Hélène Tubeuf, Sandrine M. Caputo, Teresa Sullivan, Julie Rondeaux, Sophie Krieger, Virginie Caux-Moncoutier, Julie Hauchard, Gaia Castelain, Alice Fiévet, Laëtitia Meulemans, Françoise Révillion, Mélanie Léoné, Nadia Boutry-Kryza, Capucine Delnatte, Marine Guillaud-Bataille, Linda Cleveland, Susan Reid, Eileen Southon, Omar Soukarieh, Aurélie Drouet, Daniela Di Giacomo, Myriam Vezain, Françoise Bonnet-Dorion, Violaine Bourdon, Hélène Larbre, Danièle Muller, Pascal Pujol, Fátima Vaz, Séverine Audebert-Bellanger, Chrystelle Colas, Laurence Venat-Bouvet, Angela R. Solano, Dominique Stoppa-Lyonnet, Claude Houdayer, Thierry Frebourg, Pascaline Gaildrat, Shyam K. Sharan, Alexandra Martins
Language: English
Topic: RNA Research and Splicing
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4362423743