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CTGA Database Listing
Arab Genomic Studies
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  • DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
    OMIM # 274270
    DPD DEFICIENCY, DPYD DEFICIENCY, THYMINE-URACILURIA, HEREDITARY, PYRIMIDINEMIA, FAMILIAL,
  • Leber Congenital Amaurosis 13
    OMIM # 612712
    LCA13
  • Purine Nucleoside Phosphorylase
    OMIM # 164050
    PNP, Nucleoside Phosphorylase, NP, Purine-Nucleoside:Orthophosphate Ribosyltransferase,
  • Retinitis Pigmentosa 12
    OMIM # 600105
    RP12, Retinitis Pigmentosa with or without Paraarteriolar Preservation of Retinal Pigment Epithelium, RP with or without Preserved Paraarteriole Retinal Pigment Epithelium, RP with or without PPRPE,
  • Retinitis Pigmentosa 55
    OMIM # 613575
    RP55
  • Retinol Dehydrogenase 12
    OMIM # 608830
    RDH12, Retinol Dehydrogenase, All-Trans and 9-Cis,
  • Microphthalmia, Isolated 6
    OMIM # 613517
    MCOP6, Microphthalmia, Posterior Nonsyndromic,
  • Mouse Double Minute 2 Homolog
    OMIM # 164785
    MDM2, p53-Binding Protein MDM2, Oncoprotein MDM2, HDM2,
  • X-Ray Repair, Complementing Defective, in Chinese Hamster, 5
    OMIM # 194364
    XRCC5, Ku Antigen, 80-kD Subunit, Ku80, Ku86,
  • Metachromatic Leukodystrophy due to Saposin B Deficiency
    OMIM # 249900
    Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency, Saposin B Deficiency,
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