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Advanced Download Gene List
  • BLM
    • Bloom Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • SCN1A
    • Hippocampal Sclerosis
    • Dravet Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • FBLN5
    • Cutis Laxa
  • ELN
    • Cutis Laxa
  • IFIH1
    • Singleton Merten Syndrome
  • PYCR1
    • Cutis Laxa
  • EFEMP2
    • Cutis Laxa
    • Cholera
  • LTBP4
    • Cutis Laxa
    • Bloom Syndrome
  • SCN9A
    • Dravet Syndrome
  • ASS1
    • Citrullinemia Type I
  • STXBP1
    • Dravet Syndrome
  • KIT
    • Urticaria Pigmentosa
    • Cholera
    • Telangiectasia Macularis Eruptiva Perstans
  • TBC1D24
    • Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer's Cramp
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • SCN1B
    • Dravet Syndrome
    • Enamel-Renal Syndrome
  • ATP7A
    • Cutis Laxa
  • SCN2A
    • Dravet Syndrome

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