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Details on Person VWF variant does not bind to collagen type I

Class:IdFailedReaction:9823593
_displayNameVWF variant does not bind to collagen type I
_doReleaseTRUE
_timestamp2023-11-09 15:40:11
authored[InstanceEdit:9823584] Shamovsky, Veronica, 2023-01-07
compartment[Compartment:984] extracellular region
created[InstanceEdit:9823584] Shamovsky, Veronica, 2023-01-07
disease[Disease:9705355] blood platelet disease
edited[InstanceEdit:9852766] Shamovsky, Veronica, 2023-11-07
entityFunctionalStatus[EntityFunctionalStatus:9823613] loss_of_function of VWF A3 domain variant multimer [extracellular region]
input[Polymer:1474201] Collagen type I fibril [extracellular region] [Homo sapiens]
[CandidateSet:9823594] VWF A3 domain variant multimer [extracellular region] [Homo sapiens]
literatureReference[LiteratureReference:9823612] Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor
[LiteratureReference:9823618] Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD
[LiteratureReference:9823614] Analysis of the role of von Willebrand factor, platelet glycoprotein VI-, and α2β1-mediated collagen binding in thrombus formation
[LiteratureReference:9823652] Von Willebrand disease type 2M: Correlation between genotype and phenotype
modified[InstanceEdit:9823663] Shamovsky, Veronica, 2023-01-08
[InstanceEdit:9851588] Shamovsky, Veronica, 2023-10-28
[InstanceEdit:9852867] Shamovsky, Veronica, 2023-11-07
[InstanceEdit:9852919] Shamovsky, Veronica, 2023-11-07
[InstanceEdit:9853006] Shamovsky, Veronica, 2023-11-09
nameVWF variant does not bind to collagen type I
normalReaction
releaseDate2023-12-06
reviewed[InstanceEdit:9852868] Gao, Rui, 2023-11-06
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9823622] R-HSA-9823593.1
summation[Summation:9823609] Under normal physiological conditions, von Willebrand factor...
(hasEvent)[Pathway:9845622] Defective VWF binding to collagen type I [Homo sapiens]
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