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Details on Person Defective TCII does not bind Cbl in the circulation
| Class:Id | FailedReaction:3299657 |
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| _displayName | Defective TCII does not bind Cbl in the circulation |
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| _doRelease | TRUE |
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| _timestamp | 2015-02-03 17:53:03 |
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| authored | [InstanceEdit:3299640] Jassal, B, 2013-04-19 |
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| compartment | [Compartment:984] extracellular region |
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| created | [InstanceEdit:3299640] Jassal, B, 2013-04-19 |
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| disease | [Disease:3299649] megaloblastic anemia |
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| edited | [InstanceEdit:3299640] Jassal, B, 2013-04-19 |
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| entityFunctionalStatus | [EntityFunctionalStatus:3315448] loss_of_function of TCII P259R [extracellular region] |
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| input | [SimpleEntity:3000125] Cbl [extracellular region]
[EntityWithAccessionedSequence:3315449] TCII P259R [extracellular region] [Homo sapiens] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:3299641] The transcobalamin codon 259 polymorphism should be designated 776C>G, not 775G>C
[LiteratureReference:3299661] Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults
[LiteratureReference:3299646] TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations |
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| modified | [InstanceEdit:3315407] Jassal, B, 2013-04-25
[InstanceEdit:3446768] Jassal, B, 2013-05-15
[InstanceEdit:3968436] Jassal, Bijay, 2013-07-24
[InstanceEdit:4093345] Jassal, B, 2013-08-14
[InstanceEdit:5654973] Jassal, Bijay, 2014-12-04
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective TCII does not bind Cbl in the circulation |
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| normalReaction |
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| releaseDate | 2013-09-18 |
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| reviewed | [InstanceEdit:4093346] Watkins, D, 2013-08-14 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:4545290] R-HSA-3299657.2 |
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| summation | [Summation:3299648] Transcobalamin II (TCII, the product of the gene TCN2) is a ... |
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| (hasEvent) | [Pathway:3359454] Defective TCN2 causes TCN2 deficiency [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9785545] Update Tracker - [FailedReaction:3299657] Defective TCII does not bind Cbl in the circulation - v52:[add_removeInput] |
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