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    α-l-Iduronidase Premature Stop Codons and Potential Read-Through in Mucopolysaccharidosis Type I Patients
    1
    1. ClingenBaseline 22 Oct 2026
      R628X/W402XgccTGAcca/ctcTAGgcc0.43±0.063.80±0.202.54±0.14

      Case#: Hein Proband, Australian

      DiseaseAssertion: MPS I, attenuated

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: IDUA activity=0.43±0.06 pmol/min per mg

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod:

      PreviouslyPublished: n/a

      Variant: R628X/W402X

      ClinVar: 11908; 550421

      CAID: CA220498; CA2802462

      SupplementalData: n/s

      CA220498 ClinVarID: 11908 CA2802462 ClinVarID: 550421 CaseInfo Individual inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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