5 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The D' domain of von Willebrand factor requires the presence of the D3 domain for optimal factor VIII binding
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    pubmed.ncbi.nlm.nih.gov/30111575/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Limitations of the Ristocetin Cofactor Assay in Measurement of VWF Function
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    ncbi.nlm.nih.gov/pmc/articles/PMC3825106/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease
    1
    1. ClingenBaseline 21 Oct 2026
      A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease

      PMID: 8865541

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/8865541/
  5. www.jci.org www.jci.org
    Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
    1
    1. ClingenBaseline 21 Oct 2026
      Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.

      PMID: 2010538

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    jci.org/articles/view/115122
  6. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Expression studies on a novel type 2B variant of the von Willebrand factor gene (R1308L) characterized by defective collagen binding
    1
    1. ClingenBaseline 21 Oct 2026
      Expression studies on a novel type 2B variant of the von Willebrand factor gene (R1308L) characterized by defective collagen binding

      PMID: 16985174

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2005.01638.x