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Details on Person Defective NTHL1 truncation mutants do not bind thymine glycol (Tg)
| Class:Id | FailedReaction:9630043 |
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| _displayName | Defective NTHL1 truncation mutants do not bind thymine glycol (Tg) |
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| _doRelease | TRUE |
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| _timestamp | 2019-02-22 02:34:55 |
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| authored | [InstanceEdit:9632050] Orlic-Milacic, Marija, 2018-12-13 |
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| compartment | [Compartment:7660] nucleoplasm |
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| created | [InstanceEdit:9630046] Orlic-Milacic, Marija, 2018-11-27 |
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| disease | [Disease:1500689] cancer |
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| edited | [InstanceEdit:9635155] Orlic-Milacic, Marija, 2019-01-17 |
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| entityFunctionalStatus | [EntityFunctionalStatus:9630216] loss_of_function of NTHL1 truncation mutants [nucleoplasm] |
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| input | [CandidateSet:9630217] NTHL1 truncation mutants [nucleoplasm] [Homo sapiens]
[GenomeEncodedEntity:110176] Tg-dsDNA [nucleoplasm] [Homo sapiens] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:9629985] A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
[LiteratureReference:9630214] Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review |
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| modified | [InstanceEdit:9630220] Orlic-Milacic, Marija, 2018-11-30
[InstanceEdit:9630249] Orlic-Milacic, Marija, 2018-11-30
[InstanceEdit:9630250] Orlic-Milacic, Marija, 2018-11-30
[InstanceEdit:9635157] Orlic-Milacic, Marija, 2019-01-17
[InstanceEdit:9635708] Orlic-Milacic, Marija, 2019-02-07
[InstanceEdit:9637774] Orlic-Milacic, Marija, 2019-02-19
[InstanceEdit:9637990] Orlic-Milacic, Marija, 2019-02-22
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective NTHL1 truncation mutants do not bind thymine glycol (Tg) |
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| normalReaction |
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| releaseDate | 2019-03-20 |
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| reviewed | [InstanceEdit:9635156] Kuiper, Roland P, 2019-01-14
[InstanceEdit:9635705] Doetsch, Paul W, 2019-01-31
[InstanceEdit:9637772] Rivera Polo, Barbara, 2019-02-19
[InstanceEdit:9637988] de Voer, Richarda M, 2019-02-21 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:9630050] R-HSA-9630043.2 |
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| summation | [Summation:9630246] NTHL1 Q90TER (NTHL1 Q90*) truncation mutant (Weren et al. 20... |
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| (hasEvent) | [Pathway:9630222] Defective NTHL1 substrate binding [Homo sapiens] |
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