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Query author contributions in Reactome

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Details on Person SERPING1 G493R [extracellular region]

Class:IdEntityWithAccessionedSequence:9650561
_displayNameSERPING1 G493R [extracellular region]
_timestamp2019-06-25 23:15:58
compartment[Compartment:984] extracellular region
created[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
disease[Disease:9650398] C1 inhibitor deficiency
endCoordinate500
hasModifiedResidue[ReplacedResidue:9650387] glycine 493 replaced with L-arginine
literatureReference[LiteratureReference:9650435] Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations
[LiteratureReference:9650533] Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling
modified[InstanceEdit:9651389] Shamovsky, Veronica, 2019-06-25
nameSERPING1 G493R
C1Inh G493R
plasma protease C1 inhibitor G493R
C1-In G493R
referenceEntity[ReferenceGeneProduct:57002] UniProt:P05155 SERPING1 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9650591] R-HSA-9650561.1
startCoordinate23
(hasCandidate)[CandidateSet:9650491] HAE type 2-causing SERPING1 variants [extracellular region] [Homo sapiens]
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No pathways have been reviewed or authored by SERPING1 G493R [extracellular region] (9650561)
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