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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PQBP1
    • Renpenning's Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • MAGI2
    • Epileptic Encephalopathy, Early Infantile, 60
    • Adenoid Cystic Carcinoma
  • CDKL5
    • Epileptic Encephalopathy, Early Infantile, 60
    • Craniodiaphyseal Dysplasia
  • ARX
    • Epileptic Encephalopathy, Early Infantile, 60
  • STXBP1
    • Epileptic Encephalopathy, Early Infantile, 60
  • CD55
    • Protein Losing Enteropathy
  • ASS1
    • Citrullinemia Type I
  • TSC2
    • Epileptic Encephalopathy, Early Infantile, 60
  • PTEN
    • Thrombophlebitis
    • Protein Losing Enteropathy
    • Adenoid Cystic Carcinoma
  • SPTAN1
    • Epileptic Encephalopathy, Early Infantile, 60
  • SCN2A
    • Epileptic Encephalopathy, Early Infantile, 60
  • TP53
    • Adenoid Cystic Carcinoma
  • CTNS
    • Cystinosis
  • GRIN2B
    • Epileptic Encephalopathy, Early Infantile, 60
  • ST3GAL3
    • Epileptic Encephalopathy, Early Infantile, 60
  • CNPY3
    • Epileptic Encephalopathy, Early Infantile, 60
  • PLCB1
    • Epileptic Encephalopathy, Early Infantile, 60

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