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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modelling
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    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modelling

      PMID: 11154147

      Notes: Tyr1321Asp reported as Tyr558Asp and c.4211T>G

      CAID: CA383506021

      VWD:2M LaboratoryData Phenotyping CA383506021 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    Tags

    • VWD:2M
    • CA383506021
    • inferred_gene_source:CAID
    • Phenotyping
    • LaboratoryData
    • inferred_gene_hgnc:12726
    • ClinGen VWF

    Annotators

    • ClingenBaseline

    URL

    pubmed.ncbi.nlm.nih.gov/11154147/
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