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    Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A
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    1. ClingenBaseline 24 Oct 2026
      II2

      Proband: Mazurier_II2

      AgeAtReport: 20yo female

      HPO: HP:0000421, HP:0002248, hematoma but did not specify spontaneous and/or frequent

      Labs: 4 measurements taken for the same proband so values are a range: FVIII:C 4-10 IU/dL, VWF:Ag 30-53 IU/dL, FVIII:Ag 4-8 IU/dL, VWF:FVIIIB absent

      Variant: C1060R - NM_000552.5:c.3178T>C (maternal)

      Variant: Y357X - NM_000552.5:c.1071C>A (paternal)

      CAID: CA114176

      CAID: CA114174

      CompoundHeterozygote Proband PhaseConfirmation VWD:2N CAID:CA114176 CAID:CA114174 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2002.03819.x