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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern
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    1. ClingenBaseline 22 Oct 2026
      mutation

      Case#: Heit_Proband_HB541 (assumed male, AmerIndian from Peru)

      DiseaseAssertion: Severe Hemophilia B

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0011858

      CaseHPOsFreeText: reduced factor IX activity (FIX:C: <1%

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Gene: F9

      Variant: NM_000133.4:c.137G>C (p.Arg46Thr)

      LegacyVariant: c.6374 G>C (p.Arg-1Thr)

      ClinVar: Absent/Not Reported

      CAID: CA414435590

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Zygosity:NoZygosityAssertion CAID:CA414435590 ParentalTest:Unknown FIXTesting:Partial DiseaseSeverity:Severe inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    pubmed.ncbi.nlm.nih.gov/9600455/