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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: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Abnormal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1422_1423dup (Y475SfsTer?)

      Variant1ClinVarID: 554471

      Variant1CAID: CA2802254

      Variant2: c.1505G>C (p.R502P)

      Variant2ClinVarID: 2432718

      Variant2CAID: CA355964750

      AdditionalVariants: Yes - c.792G>T (p.K264N)

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:2432718 CAID:CA355964750 ClinVarID:2432782 CAID:CA355962277 ClinVarID:554471 CAID:CA2802254 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347623005073