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2 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene
    1
    1. ClingenBaseline 24 Oct 2026
      in Baseline Annotations
      Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene

      PMID: 29106755

      Gene: HEXB

      Disease: Sandhoff Disease

      MonDO: MONDO:0010006

      ClinGen General HEXB inferred_gene_hgnc:4879 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    • inferred_gene_hgnc:4879
    • HEXB
    • inferred_gene_source:Gene_Name
    • UNC Biocuration Core
    • General
    • ClinGen

    Annotators

    • ClingenBaseline

    URL

    pubmed.ncbi.nlm.nih.gov/29106755/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

      PMID: 31140649

      Gene: HEXB

      Disease: Sandhoff Disease

      MonDO: MONDO:0010006

      ClinGen General HEXB inferred_gene_hgnc:4879 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    • inferred_gene_hgnc:4879
    • HEXB
    • inferred_gene_source:Gene_Name
    • UNC Biocuration Core
    • General
    • ClinGen

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6772114/
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