Variant: p.Cys1190Arg and 5'UTR variant - VWF:Ag 32 IU/dL, VWF:RCo 29 IU/dL, FVIII:C 46 IU/dL -- patient also carries a promoter variant phase unknown, no bleeding phenotype or multimer data. First report of the variant

CA228423

PMID: 32864553

Notes: case cohort with good genotyping of variants in supp. methods. The only omission is a clear/explicit statement or reporting of excessive bleeding phenotype with the cases and disclosing familial relationships