Reactome | loss_of_function of RDH12 LOF variants [photoreceptor inner segment membrane]

Schema > EntityFunctionalStatus > Entries

created	[InstanceEdit:2471674] Jassal, Bijay, 2012-09-21
dbId	2471725
diseaseEntity	[DefinedSet:R-HSA-2471705] RDH12 LOF variants [photoreceptor inner segment membrane]
displayName	loss_of_function of RDH12 LOF variants [photoreceptor inner segment membrane]
functionalStatus	[FunctionalStatus:2250307] loss_of_function via point_mutation [FunctionalStatus:2409052] loss_of_function via stop_gained [FunctionalStatus:2823060] loss_of_function via frameshift_truncation
modified	[InstanceEdit:9918468] Orlic-Milacic, Marija, 2024-08-15
normalEntity	[EntityWithAccessionedSequence:R-HSA-2464787] RDH12 [photoreceptor inner segment membrane]
schemaClass	EntityFunctionalStatus

(entityFunctionalStatus)

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