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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
      0.36

      Case: 2A-5

      DiseaseAssertion: VWD2A

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.36; AcuStar CB/Ag = 0.15; ELISA CB/Ag = 0.24

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: PMID: 1537829

      Gene: VWF

      Variant: c.4789C>T (p.Arg1597Trp)

      HGVS: NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)

      ClinVarID: 285; https://www.ncbi.nlm.nih.gov/clinvar/variation/285/?new_evidence=false

      CAID:

      gnomAD: absent

      Individual CaseInfo PreviouslyPublished Gene:VWF InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2A Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:285 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743