Pathogenic Variants of DNAJC12 and Evaluation of the Encoded Cochaperone As a Genetic Modifier of Hyperphenylalaninemia.
Diana Gallego,Fatima Leal,Alejandra Gamez,Margarita Castro,Rosa Navarrete,Obdulia Sanchez-Lijarcio,Isidro Vitoria,Maria Bueno-Delgado,Amaya Belanger-Quintana,Ana Morais,Consuelo Pedron-Giner, Inmaculada Garcia,Jaume Campistol,Rafael Artuch, Carlos Alcaide,Veronica Cornejo,David Gil,Raquel Yahyaoui,Lourdes R. Desviat,Magdalena Ugarte,Aurora Martinez,Belen Perez Human mutation（2020）
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DNAJC12,hyperphenylalaninemia,molecular chaperones,phenylketonuria,proteostasis network
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