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    Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy | Ovid
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    1. ClingenBaseline 23 Oct 2026
      Table 1

      Case#: Cz7, Italy (Calabria)

      DiseaseAssertion: Hemophilia A

      FamilyInfo: Sporadic

      ParentalTesting: NA

      CasePresentingHPOs: NA

      CaseHPOFreeText: FVII:C <1%

      CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method

      Gene: F8

      Variant: NM_000132.3(F8):c.5143C>T (p.Arg1715Ter)

      ClinVar: 10267 https://www.ncbi.nlm.nih.gov/clinvar/variation/10267/

      CAID: CA255155

      gnomAD: Not reported

      CaseInfo HGNC:3546 InheritancePattern:DeNovoAssertion DiseaseEntity:FactorVIIIDeficiency ParentalTest:Unknown Zygosity:NoZygosityAssertion ClinVarID:10267 CAID:CA255155 FVIIItesting:Partial Gene:F8 Mutation:Nonsense inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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