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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 23 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 51, Poland

      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.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: Nomenclature in the paper - c.1398delC; current nomenclature - c.1400del p.Pro467ArgfsTer?)

      Variant2ClinVarID: 3910474

      Variant2CAID: CA2586965982

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 CAID:CA220498 ClinVarID:3910474 CAID:CA2586965982 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/