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Advanced Download Gene List
  • PRNP
    • Kuru, Susceptibility To
    • Akinetic Mutism
    • Variant Creutzfeldt–jakob Disease
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • SLC4A1
    • Southeast Asian Ovalocytosis
  • PQBP1
    • Renpenning's Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • SRD5A2
    • 5α-Reductase Deficiency
  • PAH
    • Phenylketonuria
  • ASS1
    • Citrullinemia Type I
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • DDX58
    • Singleton Merten Syndrome
  • SLC11A1
    • Buruli Ulcer
  • FH
    • Fumarase Deficiency
  • APOB
    • Familial Isolated Vitamin E Deficiency
  • APOA1
    • Familial Isolated Vitamin E Deficiency
  • ALDH1A1
    • Variant Creutzfeldt–jakob Disease
  • H4C4
    • Variant Creutzfeldt–jakob Disease
  • SNORA16B
    • Variant Creutzfeldt–jakob Disease
  • KRT73
    • Variant Creutzfeldt–jakob Disease

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