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  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
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    1. ClingenBaseline 23 Oct 2026
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      Case#: Patient 2, female, 6 years (age at presentation)

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: Consanguinity in the family present for this patient.

      CasePresentingHPOs: Corneal clouding, dysostosis multiplex, hepatomegaly, joint contractures, splenomegaly (HP:0007957, HP:0000943, HP:0002240, HP:0100790, HP:0001744)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.223G>C (p.A75P)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355946364

      Variant2: c.223G>C (p.A75P)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355946364

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355946364 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795