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Landscape Analysis of COL6A1 , COL6A2 , and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

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Title: Landscape Analysis of COL6A1 , COL6A2 , and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Authors: Fortunato, Fernanda1 (AUTHOR), Fiocco, Laura1,2 (AUTHOR), Margutti, Alice1,3 (AUTHOR), Neri, Marcella1,4 (AUTHOR), D'Amico, Adele2,5 (AUTHOR), Bertini, Enrico2,6 (AUTHOR), Ricci, Enzo3,7 (AUTHOR), Mercuri, Eugenio Maria4,5,8 (AUTHOR), Pane, Marika4,5,9 (AUTHOR), Massa, Roberto6,10 (AUTHOR), Greco, Giulia6,11 (AUTHOR), Berardinelli, Angela Lucia7,12 (AUTHOR), Cereda, Cristina8,9,13 (AUTHOR), Pini, Antonella10,14 (AUTHOR), Merlini, Luciano1,11,15 (AUTHOR), Fusco, Carlo12,16 (AUTHOR), Rodolico, Carmelo13,17 (AUTHOR), Messina, Sonia13,18 (AUTHOR), Fiorillo, Chiara14,15,19 (AUTHOR), Bruno, Claudio15,16,20 (AUTHOR)
Source: Biomolecules (2218-273X). Oct2025, Vol. 15 Issue 10, p1426. 19p.
Database: Academic Search Ultimate
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