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*

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

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