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Advanced Download Gene List
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
    • Alpha-Thalassemia
  • POLG
    • Balo Concentric Sclerosis
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PQBP1
    • Renpenning's Syndrome
  • PRPS1
    • Arts Syndrome
  • HBA1
    • Alpha-Thalassemia
  • HBA2
    • Alpha-Thalassemia
  • FAM20A
    • Enamel-Renal 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
  • GLRB
    • Hyperekplexia
  • ASS1
    • Citrullinemia Type I
  • SLC6A5
    • Hyperekplexia
  • HBB
    • Alpha-Thalassemia
  • GLRX5
    • Anemia, Sideroblastic, 3, Pyridoxine-Refractory
  • SLC25A38
    • Anemia, Sideroblastic, 3, Pyridoxine-Refractory
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma

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