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Details on Person Mutations in NHLRC1 cause progressive myoclonus epilepsy
| Class:Id | LiteratureReference:3797223 |
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| _displayName | Mutations in NHLRC1 cause progressive myoclonus epilepsy |
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| _timestamp | 2013-07-05 20:12:40 |
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| author | [Person:3797219] Chan, Elayne M
[Person:3797224] Young, Edwin J
[Person:3797215] Ianzano, Leonarda
[Person:3797213] Munteanu, Iulia
[Person:3797228] Zhao, Xiaochu
[Person:3797233] Christopoulos, Constantine C
[Person:3797216] Avanzini, Giuliano
[Person:3797232] Elia, Maurizio
[Person:3322058] Ackerley, Cameron A
[Person:3797221] Jovic, Nebojsa J
[Person:3797225] Bohlega, Saeed
[Person:3785673] Andermann, Eva
[Person:426088] Rouleau, Guy A
[Person:3785678] Delgado-Escueta, Antonio V
[Person:3785657] Minassian, Berge A
[Person:372472] Scherer, SW |
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| created | [InstanceEdit:3797222] D'Eustachio, P, 2013-07-05 |
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| journal | Nat. Genet. |
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| modified | [InstanceEdit:3797234] D'Eustachio, P, 2013-07-05 |
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| pages | 125-7 |
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| pubMedIdentifier | 12958597 |
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| title | Mutations in NHLRC1 cause progressive myoclonus epilepsy |
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| volume | 35 |
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| year | 2003 |
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| (literatureReference) | [Pathway:3785653] Myoclonic epilepsy of Lafora [Homo sapiens]
[FailedReaction:3797226] Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease) [Homo sapiens]
[DefinedSet:3797212] NHLRC1 mutants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3797218] NHLRC1 F33S [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3797231] NHLRC1 C26S [cytosol] [Homo sapiens] |
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