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Details on Person loss_of_function of MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm]
| Class:Id | EntityFunctionalStatus:9022526 |
|---|---|
| _displayName | loss_of_function of MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm] |
| _timestamp | 2017-09-27 15:38:31 |
| created | [InstanceEdit:9022524] Orlic-Milacic, Marija, 2017-09-25 |
| diseaseEntity | [DefinedSet:9022525] MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm] [Homo sapiens] |
| functionalStatus | [FunctionalStatus:2317386] loss_of_function via missense_variant |
| modified | [InstanceEdit:9023426] Orlic-Milacic, Marija, 2017-09-27 [InstanceEdit:9023448] Orlic-Milacic, Marija, 2017-09-27 [InstanceEdit:9023458] Orlic-Milacic, Marija, 2017-09-27 [InstanceEdit:9631717] Wu, G, 2018-12-12 |
| normalEntity | [CandidateSet:9005549] MECP2 [nucleoplasm] [Homo sapiens] |
| (entityFunctionalStatus) | [FailedReaction:9022465] MECP2 mutants R106W, D121G, R133H, S134F, T158M and T158A do not bind to 5mC-DNA [Homo sapiens] |
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No pathways have been reviewed or authored by loss_of_function of MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm] (9022526)
