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2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

      PMID: 21159800

      Gene: TOPORS

      inferred_gene_hgnc:21653 inferred_gene_source:Gene_Name Retina GCEP
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    Tags

    • Retina GCEP
    • inferred_gene_hgnc:21653
    • inferred_gene_source:Gene_Name

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3033188/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

      PMID: 18509552

      Gene: TOPORS

      inferred_gene_hgnc:21653 inferred_gene_source:Gene_Name Retina GCEP
    Visit annotations in context

    Tags

    • Retina GCEP
    • inferred_gene_hgnc:21653
    • inferred_gene_source:Gene_Name

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2391085/
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