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    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 22 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.1855C>T (p.R619X)

      Variant1ClinVarID: 280976

      Variant1CAID: CA2802455

      Variant2: c.1169T>C (p.M390T)

      Variant2ClinVarID: 1496867

      Variant2CAID: CA355963466

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:280976 CAID:CA2802455 ClinVarID:1496867 CAID:CA355963466 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347623005073