1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay
    1
    1. ClingenBaseline 23 Oct 2026
      Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

      PMID: 19773258

      Notes: c.2546+3G>C variant with confirmed splicing impact, exon 19 skipping and premature stop codon in exon 20 leading to NMD. Lab values are borderline normal and not inclusive of values needed for type 2N

      CAID: CA2013880906

      PatientDetails: more detailed proband and proband father lab values are in the supplementary data

      VWD:2N CA2013880906 SupplementaryData inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC2805751/