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    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 21 Oct 2026
      Abnormal

      Case#: No additional case information provided.

      DiseaseAssertion: Not specified

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1148G>A (p.R383H)

      Variant1ClinVarID: 558189

      Variant1CAID: CA2802205

      Variant2: c.112C>A (p.R89S)

      Variant2ClinVarID: 2432781

      Variant2CAID: CA355945526

      AdditionalVariants: c.250G>A (p.G48S), ClinVarID:726495, CAID:CA2801152

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:558189 CAID:CA2802205 ClinVarID:2432781 CAID:CA355945526 ClinVarID:726495 CAID:CA2801152 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347623005073