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Journal: Biomedicines, 2025
Volume: 13
Number: 1904
Article:
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication
Authors:
by
Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, Stefania Zampieri, Anna Morgan, Stefania Lenarduzzi, Giuseppe Giovanni Nardone, Elisa Paccagnella, Stefania Cappellani, Laura Diplotti, Stefano Pensiero, Fulvio Parentin, Paolo Gasparini, Maurizio Battaglia Parodi and Giorgia Girotto
Link:
https://www.mdpi.com/2227-9059/13/8/1904
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