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Details on Person loss_of_function via point_mutation

Class:Id	FunctionalStatus:2250307
_displayName	loss_of_function via point_mutation
_timestamp	2012-07-26 23:26:36
created	[InstanceEdit:2250306] Jassal, B, 2012-05-15
functionalStatusType	[FunctionalStatusType:2426104] loss_of_function
modified	[InstanceEdit:2426112] Wu, G, 2012-07-26
structuralVariant	[SequenceOntology:2250304] point_mutation
(functionalStatus)	[EntityFunctionalStatus:2250305] loss_of_function of IDUA mutants [lysosomal lumen] [EntityFunctionalStatus:2262741] loss_of_function of Ca2+:Ca2+:IDS mutants:IDS mutants [lysosomal lumen] [EntityFunctionalStatus:2263454] loss_of_function of SGSH mutants:Ca2+ [lysosomal lumen] [EntityFunctionalStatus:2263491] loss_of_function of HGSNAT mutants [lysosomal membrane] [EntityFunctionalStatus:2263493] loss_of_function of GNS mutants [lysosomal lumen] [EntityFunctionalStatus:2263498] loss_of_function of GALNS mutants [lysosomal lumen] [EntityFunctionalStatus:2263500] loss_of_function of NAGLU mutants [lysosomal lumen] [EntityFunctionalStatus:2265532] loss_of_function of GLB1 mutants [lysosomal lumen] [EntityFunctionalStatus:2282890] loss_of_function of ARSB mutants:Ca2+ [lysosomal lumen] [EntityFunctionalStatus:2318380] loss_of_function of GUSB mutants [lysosomal lumen] List all 229 refering instances
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No pathways have been reviewed or authored by loss_of_function via point_mutation (2250307)