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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
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    1. ClingenBaseline 21 Oct 2026
      9 F/21 <1 3 No 26 c.1–30071_220+3445del/c.3940delGa p.M1_G74delX8/p.V1314SfsX33a 1–3/28 Heterozygous

      Case: 9, F, 21, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 3, Bleeding Score: 26

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.1–30071_220+3445del (p.Met1_Gly74delX8), Exon 1-3

      c.3940delG (p.Val1314SerfsX33), Exon 28

      Compound Heterozygous

      DiseaseEntity:VWD3 Mutation:Inframe CAID:CA2499221796 Mutation:c.1–30071_220+3445del Zygosity:CompoundHeterozygous inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.23265