Reactome | loss_of_function of HIBCH mutants [mitochondrial matrix]

Schema > EntityFunctionalStatus > Entries

created	[InstanceEdit:9916725] Rothfels, Karen, 2024-07-25
dbId	9916723
diseaseEntity	[DefinedSet:R-HSA-9916724] HIBCH mutants [mitochondrial matrix]
displayName	loss_of_function of HIBCH mutants [mitochondrial matrix]
functionalStatus	[FunctionalStatus:2317386] loss_of_function via missense_variant [FunctionalStatus:2409052] loss_of_function via stop_gained
modified	[InstanceEdit:9916927] Rothfels, Karen, 2024-07-26
normalEntity	[EntityWithAccessionedSequence:R-HSA-70872] HIBCH [mitochondrial matrix]
schemaClass	EntityFunctionalStatus

(entityFunctionalStatus)

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