• A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy 

      Rossi, Daniela; Palmio, Johanna; Evilä, Anni; Galli, Lucia; Barone, Virginia; Caldwell, Tracy A; Policke, Rachel A; Aldkheil, Esraa; Berndsen, Christopher E; Wright, Nathan T; Malfatti, Edoardo; Brochier, Guy; Pierantozzi, Enrico; Jordanova, Albena; Guergueltcheva, Velina; Romero, Norma Beatriz; Hackman, Peter; Eymard, Bruno; Udd, Bjarne; Sorrentino, Vincenzo (2017)
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