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A novel <i>FLNC</i> frameshift and an <i>OBSCN</i> variant in a family with distal muscular dystrophy
Published 2017“…<div><p>A novel <i>FLNC</i> c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. …”