{
    "title": "Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.",
    "journal": "Human mutation",
    "date": "1999",
    "authors": "Scherer-Oppliger T, Matasovic A, Laufs S, Levy HL, Quackenbush EJ, Blau N, Thony B",
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            "taxid": 9606,
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    "abstract": "",
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