A Novel Genetic VWF Variant in Siblings with von Willebrand Disease Type 2N: A Case Report
PMID: 42746662 Gene: VWF HGNCID: 12726
A Novel Genetic VWF Variant in Siblings with von Willebrand Disease Type 2N: A Case Report
PMID: 42746662 Gene: VWF HGNCID: 12726
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease
PMID: 22479377 Gene: VWF HGNCID: HGNC:12726
Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification
PMID: 21410641
Gene: VWF
HGNCID: 12726
Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
PMID: 27344059 Gene: VWF HGNCID: HGNC:12726
Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site
PMID: 27543438
Gene: VWF
HGNCID: 12726
Cryptic non-canonical splice site activation ispart of the mechanism that abolishesmultimer organization in the c.2269_2270delvon Willebrand factor
Article Information:
PMID: 31320553
Gene: VWF
HGNCID: 12726
Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains
PMID: 32722784 Gene: VWF HGNCID: 12726
Type‐3 von Willebrand disease in India—Clinical spectrum and molecular profile
PMID: 29984440
Gene: VWF
HGNCID: 12726
Type-3 von Willebrand disease in India—Clinical spectrum and molecular profile
PMID: 29984440
Gene: VWF
HGNCID: 12726
Note: PDF accessed through UNC articles+
Prevalence and characterization of anti-VWF antibodies in apopulation of patients with type 3 VWD
PMID: 39088757 Gene: VWF HGNCID: HGNC:12726
NOTE: Annotation work has ceased due to confirmation from staff that there is insufficient phenotypic info and unclear/difficult variant IDs to identify for several patients.
A rare case of type 2A von Willebrand disease with compound heterozygous mutation
PMID: 40298995
Gene: VWF
HGNCID: HGNC:12726
Two cases of von Willebrand disease type 3 in consanguineousChinese families
PMID: 31793247
Gene: VMF
HGNCID: HGNC:12726
A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies
PMID: 35328514 Gene: VWF HGNCID: HGNC:12726