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Details on Person G6PC mutants [endoplasmic reticulum membrane]

Class:Id	DefinedSet:3274535
_displayName	G6PC mutants [endoplasmic reticulum membrane]
_timestamp	2015-09-04 18:10:47
compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:3274539] D'Eustachio, P, 2013-04-11
disease	[Disease:3229120] glycogen storage disease I
hasMember	[EntityWithAccessionedSequence:3274553] G6PC H119L [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:3274556] G6PC R170Q [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:3274529] G6PC R83C [endoplasmic reticulum membrane] [Homo sapiens]
literatureReference	[LiteratureReference:3274555] A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease) [LiteratureReference:3274538] Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart [LiteratureReference:3274528] Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a [LiteratureReference:3274546] Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease
modified	[InstanceEdit:3274557] D'Eustachio, P, 2013-04-11
name	G6PC mutants
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:6794709] R-HSA-3274535.1
(diseaseEntity)	[EntityFunctionalStatus:3274536] loss_of_function of G6PC mutants [endoplasmic reticulum membrane]
(physicalEntity)	[CatalystActivity:9631870] glucose-6-phosphatase activity of G6PC mutants [endoplasmic reticulum membrane]
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No pathways have been reviewed or authored by G6PC mutants [endoplasmic reticulum membrane] (3274535)