Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Nom du journal : Nucleic Acids Res

Année : 2019

Volume : doi: 10.1093/nar/gkz1212 [Epub ahead of print]

Auteurs: Martins A, Ferec C, Castelain G, Davy G, Rousselin A, Parsons MT, Revillon F, Rossing M, Bonnet-Dorion F, Leone M, Caputo SM, Audrezet MP, Fichou Y, Ka C, Leman R, Guillaud-Bataille M, Delnatte C, Sokolowska J, Gaildrat P, Krieger S, Castera L, Boutry-Kryza N, Caux-Moncoutier V, Coulet F, Bourdon V, Houdayer C, Wappenschmidt B, Rouleau E, Spurdle AB, Sévenet N, Mazoyer S, Muller D, Bressac-de-Paillerets B, Le Gac G,