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bibliographicCitation Barone V, Del Re V, Gamberucci A, Polverino V, Galli L, Rossi D, Costanzi E, Toniolo L, Berti G, Malandrini A, Ricci G, Siciliano G, Vattemi G, Tomelleri G, Pierantozzi E, Spinozzi S, Volpi N, Fulceri R, Battistutta R, Reggiani C, Sorrentino V. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. Hum Mutat. 2017 Dec;38(12):1761–73. doi: 10.1002/humu.23338. PMID: 28895244.
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title Identification and characterization of three novel mutations in theCASQ1gene in four patients with tubular aggregate myopathy
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