Query author contributions in Reactome

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Details on Person F8 S2138Y [extracellular region]

Class:Id	EntityWithAccessionedSequence:9665802
_displayName	F8 S2138Y [extracellular region]
_timestamp	2019-12-27 09:13:13
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9665826] Shamovsky, Veronica, 2019-11-01
crossReference	[DatabaseIdentifier:9672532] ClinGen:CA255204
disease	[Disease:9661959] factor VIII deficiency
endCoordinate	2351
hasModifiedResidue	[ReplacedResidue:9665815] L-serine 2138 replaced with L-tyrosine
literatureReference	[LiteratureReference:9665814] Storage of factor VIII variants with impaired von Willebrand factor binding in Weibel-Palade bodies in endothelial cells [LiteratureReference:9662340] A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor
modified	[InstanceEdit:9672533] Shamovsky, Veronica, 2019-12-27
name	F8 S2138Y FVIII S2138Y
referenceEntity	[ReferenceGeneProduct:54602] UniProt:P00451 F8 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9665851] R-HSA-9665802.1
startCoordinate	1668
(hasMember)	[CandidateSet:9665831] FVIII C1, C2 domain variants [extracellular region] [Homo sapiens]
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No pathways have been reviewed or authored by F8 S2138Y [extracellular region] (9665802)