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

Gallego, D; Leal, F; Gamez, A; Castro, M; Navarrete, R; Sanchez-Lijarcio, O; Vitoria, I; Bueno-Delgado, M; Belanger-Quintana, A; Morais, A; Pedron-Giner, C; Garcia, I; Campistol, J; Artuch, R; Alcaide, C; Cornejo, V; Gil, D; Yahyaoui, R; Desviat, LR; Ugarte, M; Martinez, A; Perez, B – 2020