1 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 24 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.250G>A (p.p.G48S)

      Variant1ClinVarID: 726495

      Variant1CAID: CA2801152

      Variant2: c.793-9C>A

      Variant2ClinVarID: 2193713

      Variant2CAID: CA2802095

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:726495 CAID:CA2801152 ClinVarID:2193713 CAID:CA2802095 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0022347623005073