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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms
    1
    1. ClingenBaseline 22 Oct 2026
      c.854delC

      Case#: Patient 1, Egyptian, female, 1.5 years old

      DiseaseAssertion: MPS1-H

      FamilyInfo: Parents were 1st cousins

      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.766del (c.854delC is the nomenclature in the literature but it is not current)

      Variant1ClinVarID: N/A

      Variant1CAID: CA2499922676

      Variant2: c.766del (c.854delC is the nomenclature in the literature but it is not current)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2499922676

      AdditionalVariants: IVS5 (1486)C>T - this is not the current nomenclature but it is identified as a polymorphism in the article. c.1398C>T seems to be the current nomenclature for this variant.

      ParentalGenotype: All mutations were confirmed in the parental DNA

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA2499922676 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/19839758/