Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy

por Papadopoulos, Constantinos, Malfatti, Edoardo, Métay, Corinne, Keren, Boris, Lejeune, Elodie, Buratti, Julien, Xirou, Sophia, Chrysanthou-Piterou, Margarita, Papadimas, George K.
Publicado 2023

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

por de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David
Publicado 2023