Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype
PMID: 35747851
Notes: some type 1C assertions, including p.Cys1190Arg which is in the same codon as p.Cys1190Tyr which seems solidly 2A
Quantitative 3D microscopy highlights altered von Willebrand factor α‐granule storage in patients with von Willebrand disease with distinct pathogenic mechanisms
PMID: 34532631
Notes: Homozygous instance of an otherwise type 2 variant, Cys1190Arg
273568T>CC1190R0.410.240.590.140.340.568——1130
Variant: CA228423
Notes: likely type 2A variant in het, with patient and recombinant multimers. However, they show supranormal multimers and an asserted loss of triplet structure