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Advanced Download Gene List
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • KCNA1
    • Episodic Ataxia Type 1
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • SLC12A6
    • Andermann Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • SLC17A5
    • Salla Disease
  • FAM20A
    • Enamel-Renal Syndrome
  • NGLY1
    • Ngly1 Deficiency
  • TRPV4
    • Congenital Distal Spinal Muscular Atrophy
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • PAH
    • Phenylketonuria
  • GFPT1
    • Congenital Myasthenic Syndromes
  • IFIH1
    • Singleton Merten Syndrome
  • AGRN
    • Congenital Myasthenic Syndromes
  • ACTG2
    • Berdon Syndrome
  • SCN4A
    • Congenital Myasthenic Syndromes
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • TRNL1
    • Merrf Syndrome
  • TRNP
    • Merrf Syndrome

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