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Details on Person Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
| Class:Id | LiteratureReference:9857614 |
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| _displayName | Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy |
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| _timestamp | 2024-01-08 09:52:06 |
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| author | [Person:6792638] Habarou, Florence
[Person:6792634] Hamel, Yamina
[Person:5696029] Haack, Tobias B
[Person:9856702] Feichtinger, René G
[Person:9857607] Lebigot, Elise
[Person:5638266] Marquardt, Iris
[Person:5683225] Busiah, Kanetee
[Person:9857611] Laroche, Cécile
[Person:9857612] Madrange, Marine
[Person:9857603] Grisel, Coraline
[Person:9857596] Pontoizeau, Clément
[Person:9857613] Eisermann, Monika
[Person:2512889] Boutron, Audrey
[Person:5632905] Chrétien, Dominique
[Person:8932839] Chadefaux-Vekemans, Bernadette
[Person:9857617] Barouki, Robert
[Person:5420859] Bole-Feysot, Christine
[Person:5617720] Nitschké, Patrick
[Person:9857601] Goudin, Nicolas
[Person:5624601] Boddaert, Nathalie
[Person:196758] Nemazanyy, I
[Person:6792628] Delahodde, Agnès
[Person:3296238] Kölker, Stefan
[Person:4549331] Rodenburg, Richard J
[Person:9857594] Korenke, G Christoph
[Person:196863] Meitinger, T
[Person:159842] Strom, TM
[Person:9839696] Prokisch, Holger
[Person:5632898] Rötig, Agnès
[Person:6792631] Ottolenghi, Chris
[Person:5696075] Mayr, Johannes A
[Person:3229119] de Lonlay, Pascale |
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| created | [InstanceEdit:9857599] Stephan, Ralf, 2024-01-08 |
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| journal | Am J Hum Genet |
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| pages | 283-290 |
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| pubMedIdentifier | 28757203 |
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| title | Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy |
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| volume | 101 |
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| year | 2017 |
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| (literatureReference) | [Reaction:6793590] LIPT2 transfers octanoyl group to GCSH [Homo sapiens] |
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No pathways have been reviewed or authored by Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy (9857614)