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  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
    1
    1. ClingenBaseline 26 Oct 2026
      c.506_513delinsGGAA

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Not detectable

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.506_513delinsGGAA (p.L169RfsTer24)

      Variant1ClinVarID: N/A

      Variant1CAID: CA645372296

      Variant2: c.506_513delinsGGAA (p.L169RfsTer24)

      Variant2ClinVarID: N/A

      Variant2CAID: CA645372296

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA645372296 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301