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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 24 Oct 2026
      10 F/56 <1 6 No NA c.4645G>Ta/c.7344C>Aa p.E1549Xa/p.C2448Xa 28/43 Heterozygous

      Case: 10, F, 56, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 6, Bleeding Score: n/a

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.4645G>T (p.Glu1549X), Exon 28

      c.7344C>A (p.Cys2448X), Exon 43

      Compound Heterozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:CompoundHeterozygous CAID:CA383500523 CAID:CA383490486 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265