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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients
    1
    1. ClingenBaseline 22 Oct 2026
      8 M/46 <1 7 No 19 c.4576C>Ta/c.6973T>Aa p.Q1526Xa/p.C2325Sa 28/40 Heterozygous

      Case: 8, M, 46, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 7, Bleeding Score: 19

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.4576C>T (p.Gln1526X), Exon 28

      c.6973T>A (p.Cys2325Ser), Exon 40, B1 Domain

      Compound Heterozygous

      DiseaseEntity:VWD3 Zygosity:CompoundHeterozygous Mutation:Nonsense Mutation:Missense CAID:CA232297763 CAID:CA383488305 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265