Query author contributions in Reactome

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Details on Person F8 W604C [endoplasmic reticulum lumen]

Class:Id	EntityWithAccessionedSequence:9661984
_displayName	F8 W604C [endoplasmic reticulum lumen]
_timestamp	2019-12-27 09:13:18
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
crossReference	[DatabaseIdentifier:9672545] ClinGen:CA255127
disease	[Disease:9661959] factor VIII deficiency
endCoordinate	2351
hasModifiedResidue	[ReplacedResidue:9662021] L-tryptophan 604 replaced with L-cysteine
literatureReference	[LiteratureReference:9662022] Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII
modified	[InstanceEdit:9672533] Shamovsky, Veronica, 2019-12-27
name	F8 W604C FVIII W604C
referenceEntity	[ReferenceGeneProduct:54602] UniProt:P00451 F8 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9662071] R-HSA-9661984.1
startCoordinate	20
(hasMember)	[CandidateSet:9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] [Homo sapiens]
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No pathways have been reviewed or authored by F8 W604C [endoplasmic reticulum lumen] (9661984)