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Details on Person F8 light chain thrombin cleavage site variants [extracellular region]

Class:Id	DefinedSet:9666387
_displayName	F8 light chain thrombin cleavage site variants [extracellular region]
_timestamp	2020-02-13 05:11:01
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9666389] Shamovsky, Veronica, 2019-11-05
disease	[Disease:9661959] factor VIII deficiency
hasMember	[EntityWithAccessionedSequence:9666388] F8 R1708C [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:9666386] F8 R1708H [extracellular region] [Homo sapiens]
literatureReference	[LiteratureReference:9666384] Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A [LiteratureReference:9666402] Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain [LiteratureReference:9666401] Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A
modified	[InstanceEdit:9667105] Shamovsky, Veronica, 2019-11-07 [InstanceEdit:9676353] Shamovsky, Veronica, 2020-02-13
name	F8 light chain thrombin cleavage site variants
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9666406] R-HSA-9666387.1
(hasComponent)	[Complex:9666399] F8 light chain thrombin cleavage site variants [extracellular region] [Homo sapiens]
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