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    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 25 Oct 2026
      NP

      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: Not performed

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.53T>C (p.L18P)

      Variant1ClinVarID: 193062

      Variant1CAID: CA238566

      Variant2: c.1651G>C (p.V551L)

      Variant2ClinVarID: 1410776

      Variant2CAID: CA2802341

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:193062 CAID:CA238566 ClinVarID:1410776 CAID:CA2802341 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347623005073