2 Matching Annotations
  1. Jul 2023
  2. docdrop.org docdrop.org
    Analysis of Jazz: A Comprehensive Approach
    1
    1. joosthuizenjazz 16 Jul 2023
      walking bass, ching-a-ding, oom-pah
      codes-of-play ching-a-ding code-of-play-oom-pah walking-bass source:cugny jse-tex-walking-bass jse-gen-codes-of-play
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    docdrop.org/download_annotation_doc/Cugny---2019---Analysis-of-Jazz-A-Comprehensive-Approach-dflh6.pdf
  3. Jul 2017
  4. www.sciencedirect.com www.sciencedirect.com
    In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU
    1
    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