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  1. 1
    Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

    Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy by Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck

    Published 2020-10-01
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    Article
  2. 2
    Dominant collagen XII mutations cause a distal myopathy

    Dominant collagen XII mutations cause a distal myopathy by Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann

    Published 2019-10-01
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