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Journal: Genes, 2022
Volume: 13
Number: 233

Article: A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism
Authors: by Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Alice Dianin, Gaetano Cantalupo, Irene Monge, Sarah Carcereri, Margherita Lucia De Bernardi, Massimo Delledonne, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Giorgio Piacentini, Francesca Teofoli, Monica Vincenzi, Marta Camilot and Andrea Bordugo
Link: https://www.mdpi.com/2073-4425/13/2/233

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