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Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
 
 

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Journal: Biomolecules, 2023
Volume: 13
Number: 1567

Article: Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges
Authors: by Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna and Enrico Bugiardiniadd Show full author list remove Hide full author list
Link: https://www.mdpi.com/2218-273X/13/11/1567

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