Proband: Nitu-Whalley_8:1
Phenotypes: O+, bleeding time 20min, FVIIIC 30 IU/dL, VWF:Ag 19 IU/dL, VWF:RCo <5 IU/dL, VWF:RCo/VWF:Ag <0.26, VWF:AC 17 IU/dL, slightly decreased multimers
2 Matching Annotations
- Oct 2026
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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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
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