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Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  II‐2
  
  Variant: c.823T>C p.Cys275Arg - used family membevr III-2 as proband for PP4
  
  CA228836 VWD:2B inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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VWD:2B

inferred_gene_source:CAID

inferred_gene_hgnc:12726

CA228836

ClinGen VWF

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ClingenBaseline

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jthjournal.org/article/S1538-7836(22)10099-1/fulltext