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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • PMM2
    • Pmm2 Deficiency
  • MYH9
    • Arterial Tortuosity Syndrome
    • Myh9-Related Disease
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FKTN
    • Fukuyama Congenital Muscular Dystrophy
  • TNNI2
    • Sheldon-Hall Syndrome
  • SLC2A10
    • Hiatal Hernia
    • Arterial Tortuosity Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • MYH3
    • Sheldon-Hall Syndrome
  • MMP21
    • Situs Ambiguus
  • IFIH1
    • Singleton Merten Syndrome
  • ACVR2B
    • Situs Ambiguus
  • ZIC3
    • Situs Ambiguus
  • NODAL
    • Situs Ambiguus
  • CFAP53
    • Situs Ambiguus
  • LEFTY2
    • Situs Ambiguus
  • TPM2
    • Sheldon-Hall Syndrome
  • TNNT3
    • Sheldon-Hall Syndrome
  • FKRP
    • Fukuyama Congenital Muscular Dystrophy
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma

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