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Advanced Download Gene List
  • APTX
    • Ataxia With Oculomotor Apraxia Type 2
    • Ataxia With Oculomotor Apraxia Type 1
  • CHM
    • Choroideremia
  • TGM1
    • Ichthyosis, Congenital, Autosomal Recessive 10
  • AFG3L2
    • Spinocerebellar Ataxia Type 28
  • RYR2
    • Catecholaminergic Polymorphic Ventricular Tachycardia
  • DCN
    • Congenital Stromal Corneal Dystrophy
  • SAR1B
    • Chylomicron Retention Disease
  • SETX
    • Ataxia With Oculomotor Apraxia Type 2
    • Ataxia With Oculomotor Apraxia Type 1
  • TAF1
    • X-Linked Dystonia-Parkinsonism
  • SPART
    • Troyer Syndrome
  • TAZ
    • Barth Syndrome
  • RAB3GAP1
    • Warburg Micro Syndrome 3
  • PNPLA1
    • Ichthyosis, Congenital, Autosomal Recessive 10
  • ALOX12B
    • Ichthyosis, Congenital, Autosomal Recessive 10
  • TRDN
    • Catecholaminergic Polymorphic Ventricular Tachycardia
  • CALM1
    • Catecholaminergic Polymorphic Ventricular Tachycardia
  • SLC25A19
    • Amish Lethal Microcephaly
  • CASQ2
    • Lateral Meningocele Syndrome
    • Catecholaminergic Polymorphic Ventricular Tachycardia
  • ABCA12
    • Ichthyosis, Congenital, Autosomal Recessive 10
  • NIPAL4
    • Ichthyosis, Congenital, Autosomal Recessive 10

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