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Advanced Download Gene List
  • COMP
    • Pseudoachondroplasia
  • SOS1
    • Epileptic Encephalopathy, Early Infantile, 15
    • Noonan Syndrome 8
  • SALL4
    • Duane-Radial Ray Syndrome
  • PTPN11
    • Noonan Syndrome 8
  • RAF1
    • Noonan Syndrome 8
  • KRAS
    • Noonan Syndrome 8
  • KERA
    • Cornea Plana 2, Autosomal Recessive
  • SCNN1B
    • Liddle Syndrome 2
  • VCP
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
  • LZTR1
    • Noonan Syndrome 8
  • RIT1
    • Noonan Syndrome 8
  • GBA
    • Gaucher Disease
  • PTEN
    • Pten Hamartoma Tumor Syndrome
    • Noonan Syndrome 8
  • SRCAP
    • Floating-Harbor Syndrome
  • RBM8A
    • Thrombocytopenia-Absent Radius Syndrome
  • SHOC2
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
    • Noonan Syndrome 8
  • TAF1
    • X-Linked Dystonia-Parkinsonism
  • NRAS
    • Noonan Syndrome 8
  • AHDC1
    • Xia–gibbs Syndrome
  • BRAF
    • Noonan Syndrome 8

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