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    Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
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    1. ClingenBaseline 24 Oct 2026
      p.Ala315dup (patient P2)

      CaseInfo: P2 (female)

      DiseaseAssertion: Carrier

      FamilyInfo: N/A

      ParentalTesting: N/A

      CasePresentingHPOs: HP:0003125, HP:0004846, HP:0001892

      CaseHPOFreeText: Low FVIII levels (undetectable FVIII:C levels and significant decrease in FVIII:Ag levels: 1.7% ± 1.1), prolonged bleeding after surgery, mild bleeding tendency

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      CasePreviousTesting: Molecular Analysis included a southern blot assay, PCR, dHPLC and a multiplex ligation-dependent probe amplification analysis. Plasmid mutagenesis, plasmid transfection were also performed.

      Gene: F8

      Variant: NM_000132.3:c.943del

      CAID: CAID:CA255085

      gnomAD: Absent/Not Reported

      Gene:F8 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorVIIIDeficiency Mutation:Missense CAID:CA255085 ParentalTest:Unknown Zygosity:Heterozygous inferred_gene_hgnc:3546 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651