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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PKLR
    • Pyruvate Kinase Deficiency Of Red Cells
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • F5
    • Factor V Deficiency
  • RHBDF2
    • Howel–evans Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • GH1
    • Isolated Growth Hormone Deficiency, Type Ii
  • FAM20A
    • Enamel-Renal Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • ALDOA
    • Aldolase A Deficiency
  • ACTG2
    • Berdon Syndrome
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • PAH
    • Phenylketonuria
  • ASS1
    • Citrullinemia Type I
  • MYH11
    • Berdon Syndrome
  • MYLK
    • Berdon Syndrome
  • CTNS
    • Cystinosis
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma

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