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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ajhg00053-0036.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      D2,

      Case#: Patient D2, Druze religious group, located in lower Galilee.

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.928C>T (p.Q310X)

      Variant1ClinVarID: 11915

      Variant1CAID: N/A

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo c.928C>T ClinVarID:11915 DiseaseEntity:MPS1 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/instance/1682364/pdf/ajhg00053-0036.pdf