Recurrent TTN metatranscript-only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Samantha J. Bryen, Lisa J. Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O'Grady, Beryl Cummings, Katherine R. Chao, Ben Weisburd, Laurent Francioli, Fathimath Faiz, Adam M. Bournazos, Ying Hu, Carla Grosmann, Denise M. Malicki, Helen Doyle, Nanna Witting, John VissingKristl G. Claeys, Kathryn Urankar, Ana Beleza-Meireles, Julia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G. Bönnemann, Daniel G. MacArthur, Mark R. Davis, Sandra T. Cooper

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