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Advanced Download Gene List
  • PMM2
    • Pmm2 Deficiency
  • ASL
    • Argininosuccinic Aciduria
  • WRN
    • Werner Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • NLRP3
    • Muckle–wells Syndrome
  • ND5
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • ACTG2
    • Berdon Syndrome
  • ND1
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
    • Machado–joseph Disease
  • PQBP1
    • Renpenning's Syndrome
  • ND6
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
  • FAM20A
    • Enamel-Renal Syndrome
  • ATXN3
    • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
    • Machado–joseph Disease
  • IFIH1
    • Singleton Merten Syndrome
  • MYH11
    • Berdon Syndrome
  • 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
  • MYLK
    • Berdon Syndrome

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