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  1. Jul 2017
  2. www.sciencedirect.com www.sciencedirect.com
    In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU
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    1. jsberg 20 Jul 2017
      The Leu249 residue (exon 7) is a pterin-binding residue in PAH.

      Structural data suggesting that Leu249 is located in the Pterin binding domain, could apply to pathogenicity criteria for NM_000277.1(PAH):c.745C>T (p.Leu249Phe) https://www.ncbi.nlm.nih.gov/clinvar/variation/102821/

      PAH ACMG_ISV_PM1
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    sciencedirect.com/science/article/pii/S0378111916307314