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Advanced Download Gene List
  • SLC19A2
    • Thiamine-Responsive Megaloblastic Anemia Syndrome
  • SALL4
    • Duane-Radial Ray Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • AFG3L2
    • Spinocerebellar Ataxia Type 28
  • OTOF
    • Otof-Related Deafness
  • GBA
    • Gaucher Disease
  • TAF1
    • X-Linked Dystonia-Parkinsonism
  • AGGF1
    • Klippel-Trenaunay-Weber Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • ADNP
    • Adnp-Related Intellectual Disability And Autism Spectrum Disorder
  • RECQL4
    • Baller-Gerold Syndrome
  • TXNL4A
    • Burn-Mckeown Syndrome
  • SLC25A19
    • Amish Lethal Microcephaly
  • YY1
    • Gabriele-De Vries Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • ISCU
    • Myopathy With Deficiency Of Iscu
  • LIPA
    • Acid Lipase Disease
  • XDH
    • Hyperuricemia
  • SEC23B
    • Congenital Dyserythropoietic Anemia
  • KLF1
    • Congenital Dyserythropoietic Anemia

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