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Advanced Download Gene List
  • BRAF
    • Cardiofaciocutaneous Syndrome
    • Legius Syndrome
    • Genu Valgum
  • MAP2K1
    • Cardiofaciocutaneous Syndrome
    • Genu Valgum
  • KRAS
    • Cardiofaciocutaneous Syndrome
    • Genu Valgum
    • Seckel Syndrome
  • CHM
    • Choroideremia
  • ABHD5
    • Cerebral Creatine Deficiency
  • CTSD
    • Harlequin Ichthyosis
    • Cln10 Disease
  • MEGF8
    • Carpenter Syndrome
    • Genu Valgum
  • HPS1
    • Hermansky-Pudlak Syndrome With Pulmonary Fibrosis
  • ABCA12
    • Harlequin Ichthyosis
  • MAP2K2
    • Cardiofaciocutaneous Syndrome
    • Genu Valgum
  • RAB23
    • Carpenter Syndrome
    • Genu Valgum
  • COL2A1
    • Genu Valgum
    • Legg-Calve-Perthes Disease
  • SPRED1
    • Legius Syndrome
  • ATR
    • Seckel Syndrome
  • GDAP1
    • Charcot-Marie-Tooth Disease Type 4a
  • PTPN11
    • Cardiofaciocutaneous Syndrome
    • Seckel Syndrome
  • CA5A
    • Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency
  • CENPJ
    • Seckel Syndrome
  • FXYD2
    • Hypomagnesemia 2, Renal
  • RAD50
    • Nijmegen Breakage Syndrome-Like Disorder

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