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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
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    1. ClingenBaseline 21 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 35, Italy

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.398_403del (p.Met133_Gly134del)

      Variant2ClinVarID: 863830

      Variant2CAID: CA2801912

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:11909 CAID:CA204563 ClinVarID:863830 CAID:CA2801912 CaseInfo DiseaseEntity:MPS1 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/