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Anikster, Yair; Haack, Tobias B.; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L.; Paulo, Joao A.; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; ... (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 100(2), pp. 257-266. Cell Press 10.1016/j.ajhg.2017.01.002
