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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    p.X654R IDUA Variant Among Thai Individuals With Intermediate Mucopolysaccharidosis Type I and Its Residual Activity as Demonstrated in COS-7 Cells
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    1. ClingenBaseline 23 Oct 2026
      Five unrelated patients

      Case#: 4 (Thai, female, diagnosed at 4y6m)

      DiseaseAssertion: MPS1

      FamilyInfo: Thai, no consanguinity

      CasePresentingHPOs: 0007759 (cloudy cornea); 0002240 (hepatomegaly); 0002857 (knock knee)

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText: no neurological symptoms detected

      CaseEnzymeAssay: 3.23 nmole/18 h/mg protein

      CaseUrineGAGs:

      CaseERT:

      CaseBMT:

      Variant1:IDUA c.935G>A: Ex7 (p.W312X)

      Variant1ClinVarID: 8555322

      Variant1CAID:

      Variant2: IDUA c.*1T>C Ex14 (p.X654Rext38)

      Variant2ClinVarID:

      Variant2CAID:

      AdditionalVariants:

      ParentalGenotype:

      PreviouslyPublished

      Gene:IDUA DiseaseEntity:MPS1 ClinVarID:8555322 UnregisteredVariant inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/29282708/