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  2. academic.oup.com academic.oup.com
    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
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    1. ClingenBaseline 21 Oct 2026
      4 missense mutations

      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.223G>C (p.A75T)

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222993 CAID:CA356994 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    academic.oup.com/hmg/article-abstract/3/6/861/594316