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Advanced Download Gene List
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • POLG
    • Balo Concentric Sclerosis
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • PQBP1
    • Renpenning's Syndrome
  • PRPS1
    • Arts Syndrome
  • PCDH19
    • Epilepsy-Intellectual Disability In Females
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
  • NFU1
    • Multiple Mitochondrial Dysfunctions Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • ISCU
    • Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
  • PAH
    • Phenylketonuria
  • MMP21
    • Situs Ambiguus
  • NODAL
    • Cyclopia
    • Situs Ambiguus
  • ACVR2B
    • Situs Ambiguus
  • ZIC3
    • Situs Ambiguus
  • GLRB
    • Hyperekplexia
  • SLC6A5
    • Hyperekplexia
  • CFAP53
    • Situs Ambiguus
  • LEFTY2
    • Situs Ambiguus

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