OnlineIMD

Equilibrative nucleoside transporter 1 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • SLC29A1 / Solute Carrier Family 29 Member 1
      • 6p21.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Equilibrative nucleoside transporter 1
  • Disease group(s)
    • 16.3    Disorders of ectonucleotide and nucleic acid metabolism