Supplementary Tables 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: Supp Tables S1-S6 (including variant classification, bioinformatics predictions versus experimental data, primer sequences, summary of biological, clinical, tumoral, familial and multifactorial data, and description of statistical analysis approaches)
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
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4362372232