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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

by Foley, A Reghan, Bolduc, Véronique, Guirguis, Fady, Donkervoort, Sandra, Hu, Ying, Orbach, Rotem, McCarty, Riley M, Sarathy, Apurva, Norato, Gina, Cummings, Beryl B, Lek, Monkol, Sarkozy, Anna, Butterfield, Russell J, Kirschner, Janbernd, Nascimento, Andrés, Benito, Daniel Natera-de, Quijano-Roy, Susana, Stojkovic, Tanya, Merlini, Luciano, Comi, Giacomo, Ryan, Monique, McDonald, Denise, Munot, Pinki, Yoon, Grace, Leung, Edward, Finanger, Erika, Leach, Meganne E, Collins, James, Tian, Cuixia, Mohassel, Payam, Neuhaus, Sarah B, Saade, Dimah, Cocanougher, Benjamin T, Chu, Mary-Lynn, Scavina, Mena, Grosmann, Carla, Richardson, Randal, Kossak, Brian D, Gospe, Jr, Sidney M, Bhise, Vikram, Taurina, Gita, Lace, Baiba, Troncoso, Monica, Shohat, Mordechai, Shalata, Adel, Chan, Sophelia H S, Jokela, Manu, Palmio, Johanna, Haliloğlu, Göknur, Jou, Cristina, Gartioux, Corine, Solomon-Degefa, Herimela, Freiburg, Carolin D, Schiavinato, Alvise, Zhou, Haiyan, Aguti, Sara, Nevo, Yoram, Nishino, Ichizo, Jimenez-Mallebrera, Cecilia, Lamandé, Shireen R, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, MacArthur, Daniel G, Wilton, Steve D, Wagener, Raimund, Bertini, Enrico, Muntoni, Francesco, Bönnemann, Carsten G
Published in medRxiv : the preprint server for health sciences (29.03.2024)
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