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  2. journals.tubitak.gov.tr journals.tubitak.gov.tr
    Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
    1
    1. ClingenBaseline 22 Oct 2026

      Case#: Patient 9, Turkish

      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.1598C>T (p.P533L)

      Variant1ClinVarID: 429205

      Variant1CAID: CA355965029

      Variant2: c.1598C>T (p.P533L)

      Variant2ClinVarID: 429205

      Variant2CAID: CA355965029

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355965029 ClinVarID:429205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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