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    • Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia 

      Gallego, Diana; Leal, Fatima; Gámez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sánchez Lijarcio, Obdulia; Vitoria, Isidro; Bueno Delgado, María; Belanger Quintana, Amaya; Morais, Ana; Pedrón Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo Espinoza, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R.; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén (Wiley, 2020)
      Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases ...