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Journal: Genes, 2025
Volume: 16
Number: 176

Article: The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies
Authors: by Luigi Chiriatti, Manuela Priolo, Roberta Onesimo, Mattia Carvetta, Chiara Leoni, Alessandro Bruselles, Francesca Clementina Radio, Camilla Cappelletti, Marco Ferilli, Daniela Ricci, Marcello Niceta, Viviana Cordeddu, Andrea Ciolfi, Cecilia Mancini, Giuseppe Zampino and Marco Tartaglia
Link: https://www.mdpi.com/2073-4425/16/2/176

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