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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • SLC6A19
    • Hartnup Disease
  • PMM2
    • Pmm2 Deficiency
    • Epileptic Encephalopathy, Early Infantile, 60
  • POLG
    • Balo Concentric Sclerosis
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • UGT1A1
    • Bronchopulmonary Dysplasia
    • Crigler-Najjar Syndrome, Type I
  • OPA3
    • Costeff Syndrome
  • SLC17A5
    • Salla Disease
  • MED12
    • Alpha-Thalassemia Mental Retardation Syndrome
    • Fg Syndrome
  • UMOD
    • Medullary Cystic Kidney Disease
  • FLNA
    • Epileptic Encephalopathy, Early Infantile, 60
    • Intestinal Neuronal Dysplasia
    • Bronchopulmonary Dysplasia
    • Fg Syndrome
  • ASS1
    • Argininosuccinic Aciduria
    • Citrullinemia Type I
  • CDKL5
    • Epileptic Encephalopathy, Early Infantile, 60
  • ARX
    • Epileptic Encephalopathy, Early Infantile, 60
  • STXBP1
    • Epileptic Encephalopathy, Early Infantile, 60
  • TSC2
    • Epileptic Encephalopathy, Early Infantile, 60
  • SPTAN1
    • Epileptic Encephalopathy, Early Infantile, 60
  • SCN2A
    • Epileptic Encephalopathy, Early Infantile, 60
  • CTNS
    • Cystinosis

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