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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I
    1
    1. ClingenBaseline 22 Oct 2026
      group of patients

      Case#: Patient A

      DiseaseAssertion: N/A

      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.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.1651-1G>T

      Variant2ClinVarID: N/A

      Variant2CAID: CA355965149

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      DiseaseEntity:MPS1 CaseInfo ClinVarID:11909 CAID:CA204563 CAID:CA355965149 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/22306676/