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. A Reghan Foley , Véronique Bolduc , Fady Guirguis , Sandra Donkervoort , Ying Hu , Rotem Orbach , Riley M McCarty , Apurva Sarathy , Gina Norato , Beryl B Cummings , Monkol Lek , Anna Sarkozy , Russell J Butterfield , Janbernd Kirschner , Andrés Nascimento , Daniel Natera-de Benito , Susana Quijano-Roy , Tanya Stojkovic , Luciano Merlini , Giacomo Comi , Monique Ryan , Denise McDonald , Pinki Munot , Grace Yoon , Edward Leung , Erika Finanger , Meganne E Leach , James Collins , Cuixia Tian , Payam Mohassel , Sarah B Neuhaus , Dimah Saade , Benjamin T Cocanougher , Mary-Lynn Chu , Mena Scavina , Carla Grosmann , Randal Richardson , Brian D Kossak , Sidney M Gospe , Vikram Bhise , Gita Taurina , Baiba Lace , Monica Troncoso , Mordechai Shohat , Adel Shalata , Sophelia H S Chan , Manu Jokela , Johanna Palmio , Göknur Haliloğlu , Cristina Jou , Corine Gartioux , Herimela Solomon-Degefa , Carolin D Freiburg , Alvise Schiavinato , Haiyan Zhou , Sara Aguti , Yoram Nevo , Ichizo Nishino , Cecilia Jimenez-Mallebrera , Shireen R Lamandé , Valérie Allamand , Francesca Gualandi , Alessandra Ferlini , Daniel G MacArthur , Steve D Wilton , Raimund Wagener , Enrico Bertini , Francesco Muntoni , Carsten G Bönnemann medRxiv : the preprint server for health sciences（2024）
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