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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; Ziv-Strasser, Limor; Malicdan, May Christine V.; Gemperle-Britschgi, Corinne; Cremer, Kirsten; [...]

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

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  • Media type: E-Article
  • Title: Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
  • Contributor: 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; Ziv-Strasser, Limor; Malicdan, May Christine V.; Gemperle-Britschgi, Corinne; Cremer, Kirsten; [...]
  • imprint: Elsevier BV, 2017
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2017.01.002
  • ISSN: 0002-9297
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Access State: Open Access