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1 Matching Annotations
  1. Oct 2026
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Worldwide distribution of common IDUA pathogenic variants
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Worldwide distribution of common IDUA pathogenic variants

      This paper is not publicly available. It was obtained via an institutional account and the relevant details annotated to the PubMed abstract.

      PMID: 29393969

      Gene: IDUA

      Disease: MPS1

      Inheritance: Autosomal recessive

      Gene:IDUA DiseaseEntity:MPS1 PMID:29393969 InheritancePattern:AutosomalRecessive inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    Tags

    • inferred_gene_hgnc:5391
    • InheritancePattern:AutosomalRecessive
    • DiseaseEntity:MPS1
    • Gene:IDUA
    • inferred_gene_source:Gene_Name
    • IDUA variant annotation
    • PMID:29393969

    Annotators

    • ClingenBaseline

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/cge.13224
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