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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
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    1. ClingenBaseline 21 Oct 2026
      0.49

      Case: 2A-1

      DiseaseAssertion: VWD2A

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.49; AcuStar CB/Ag = 0.29; ELISA CB/Ag = 0.33

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: PMID: 8435341

      Gene: VWF

      Variant: c.4541T>G (p.Phe1514Cys)

      HGVS: NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys)

      ClinVarID: 304; https://www.ncbi.nlm.nih.gov/clinvar/variation/304/?new_evidence=false

      CAID:

      gnomAD: absent

      CaseInfo PreviouslyPublished InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:304 Individual Gene:VWF inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743