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    Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients
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    1. ClingenBaseline 24 Oct 2026
      19*IranF/112—YesSevere2116C→TQ706X16HomozygousBsrI (−)

      Case: 19, F, 11, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): 2, Bleeding symptoms: Severe

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      2116C→T (Gln706X), Exon 16, Homozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:Homozygous PreviouslyPublished CAID:CA228307 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    sciencedirect.com/science/article/pii/S1079979603000330