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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    1
    1. ClingenBaseline 26 Oct 2026
      12 base pairs

      Case#: One patient from Norway

      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.134del12 (p.Arg45ProfsTer?)

      Variant1ClinVarID: N/A

      Variant1CAID: CA3064219537

      Variant2: c.134del12 (p.Arg45ProfsTer?)

      Variant2ClinVarID: N/A

      Variant2CAID: CA3064219537

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA3064219537 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/7951228/