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List of intellectual disability related genes

BLM - BLM RecQ like helicase

  • Synonym(s) : BS, RECQ2, RECQL3
  • Previous symbols and names : Bloom syndrome, Bloom syndrome RecQ like helicase
  • Type : gene with protein product
  • Chromosomal location : 15q26.1
  • OMIM: 604610
  • HGNC: 1058
  • UniProtKB: P54132
  • Genatlas: BLM
  • GenCC: BLM
  • Ensembl: ENSG00000197299
  • IUPHAR-DB: -
  • Reactome: P54132
  • LOVD: BLM

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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