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    Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
    1
    1. ClingenBaseline 23 Oct 2026
      Q380RR628PA8, A20, L14Mild, survival beyond age 35, no mental retardation

      Case#: Patient #17, Brazilian

      DiseaseAssertion: MPS1, mild

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: survival beyond age 35

      CaseNotHPOs:

      CaseNotHPOFreeText: mental retardation

      GenotypingMethod:

      PreviouslyPublished:

      Variant: Q380R; R628P (also A8, A20, L14)

      ClinVar: 1064675

      CAID:

      SupplementalData:

      CaseInfo Individual ClinVarID: 1064675 inferred_gene_hgnc:6193 inferred_gene_source:ClinVar UNC Biocuration Core
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719202002007