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Advanced Download Gene List
  • ABHD5
    • Cerebral Creatine Deficiency
  • GAMT
    • Guanidinoacetate Methyltransferase Deficiency
  • MYO5B
    • Microvillus Inclusion Disease
  • WRN
    • Werner Syndrome
  • NLRP3
    • Alopecia, Androgenetic, 1
    • Muckle–wells Syndrome
  • ND5
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • ND1
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
    • Machado–joseph Disease
  • ND6
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • ACTG2
    • Berdon Syndrome
  • ATXN3
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
    • Machado–joseph Disease
  • MC2R
    • Familial Glucocorticoid Deficiency
  • TRNS1
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • TRNW
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • TRNF
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • TRNQ
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • COX1
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • MYH11
    • Berdon Syndrome
  • MYLK
    • Berdon Syndrome
  • CSF2RA
    • Surfactant Metabolism Dysfunction, Pulmonary, 5
  • STX3
    • Microvillus Inclusion Disease

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