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

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Description scientific article published on 29 October 2019
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author: Mridul Johari  Adam Bournazos  Sandra T Cooper  Volker Straub  Kristl G Claeys  Daniel G. MacArthur  Samantha J Bryen 

Publication date October 29, 2019
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