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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • KMT2A
    • Wiedemann–steiner Syndrome
  • LBR
    • Reynolds Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • DNAAF3
    • Primary Ciliary Dyskinesia
  • NGLY1
    • Ngly1 Deficiency
  • DRC1
    • Primary Ciliary Dyskinesia
  • SMC1A
    • Wiedemann–steiner Syndrome
    • Adenoid Cystic Carcinoma
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • SLC26A4
    • Goitre
  • TPO
    • Goitre
  • ACTG2
    • Berdon Syndrome
  • PTEN
    • Thrombophlebitis
    • Protein Losing Enteropathy
    • Adenoid Cystic Carcinoma
    • Goitre
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • DMPK
    • Myotonic Dystrophy
  • DNAI1
    • Primary Ciliary Dyskinesia
  • CCDC151
    • Primary Ciliary Dyskinesia

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