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Details on Person Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
| Class:Id | LiteratureReference:9815355 |
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| _displayName | Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy |
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| _timestamp | 2022-08-16 22:37:44 |
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| author | [Person:9815348] van Karnebeek, Clara D M
[Person:9815344] Ramos, Rúben J
[Person:2033218] Wen, XY
[Person:9815347] Tarailo-Graovac, Maja
[Person:3621805] Gleeson, Joseph G
[Person:9815350] Skrypnyk, Cristina
[Person:9815336] Brand-Arzamendi, Koroboshka
[Person:9815345] Karbassi, Farhad
[Person:9815349] Issa, Mahmoud Y
[Person:9815354] van der Lee, Robin
[Person:9815346] Drögemöller, Britt I
[Person:191319] Koster, J
[Person:5686763] Rousseau, Justine
[Person:3318458] Campeau, Philippe M
[Person:9815351] Wang, Youdong
[Person:9815335] Cao, Feng
[Person:4332224] Li, Meng
[Person:9815339] Ruiter, Jos
[Person:9815342] Ciapaite, Jolita
[Person:9815340] Kluijtmans, Leo A J
[Person:9815352] Willemsen, Michel A A P
[Person:9815341] Jans, Judith J
[Person:9815353] Ross, Colin J
[Person:9815334] Wintjes, Liesbeth T
[Person:4549331] Rodenburg, Richard J
[Person:9815338] Huigen, Marleen C D G
[Person:3928084] Jia, Zhengping
[Person:191298] Waterham, HR
[Person:9759293] Wasserman, Wyeth W
[Person:201079] Wanders, Ronald J A
[Person:9815343] Verhoeven-Duif, Nanda M
[Person:5602220] Zaki, Maha S
[Person:200270] Wevers, RA |
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| created | [InstanceEdit:9815337] D'Eustachio, Peter, 2022-08-16 |
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| journal | Am J Hum Genet |
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| pages | 534-548 |
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| pubMedIdentifier | 31422819 |
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| title | Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy |
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| volume | 105 |
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| year | 2019 |
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| (literatureReference) | [CatalystActivityReference:9643893] L-aspartate:2-oxoglutarate aminotransferase activity of GOT2 dimer [mitochondrial matrix] Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
[Reaction:70613] GOT2 transaminates OA and L-Glu [Homo sapiens] |
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