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Query author contributions in Reactome

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Details on Person F8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen]

Class:IdEntityWithAccessionedSequence:9666368
_displayNameF8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen]
_timestamp2019-12-27 09:12:34
compartment[Compartment:17957] endoplasmic reticulum lumen
created[InstanceEdit:9666357] Shamovsky, Veronica, 2019-11-05
crossReference[DatabaseIdentifier:9672535] ClinVar:RCV000010863
disease[Disease:9661959] factor VIII deficiency
endCoordinate2351
hasModifiedResidue[FragmentReplacedModification:9666343] Replacement of residues 20 to 2143 by MRIQDPGK
literatureReference[LiteratureReference:9666369] Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A
[LiteratureReference:9666359] The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics
modified[InstanceEdit:9672533] Shamovsky, Veronica, 2019-12-27
nameF8 A20_M2143delinsMRIQDPGK
FVIII A20_M2143delinsMRIQDPGK
referenceEntity[ReferenceGeneProduct:54602] UniProt:P00451 F8 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9666376] R-HSA-9666368.1
startCoordinate20
(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 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen] (9666368)