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Details on Person Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
| Class:Id | LiteratureReference:9909225 |
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| _displayName | Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction |
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| _timestamp | 2024-04-30 18:09:15 |
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| author | [Person:9707855] Koehler, Katrin
[Person:9909223] Malik, Meera
[Person:9909226] Mahmood, Saqib
[Person:9909219] Gießelmann, Sebastian
[Person:5603009] Beetz, Christian
[Person:9856691] Hennings, J Christopher
[Person:9856716] Huebner, Antje K
[Person:9845545] Grahn, Ammi
[Person:5609952] Reunert, Janine
[Person:508084] Nürnberg, Gudrun
[Person:3636857] Thiele, Holger
[Person:1979914] Altmüller, J
[Person:417926] Nürnberg, Peter
[Person:9909230] Mumtaz, Rizwan
[Person:4420013] Babovic-Vuksanovic, Dusica
[Person:8877964] Basel-Vanagaite, Lina
[Person:2537609] Borck, Guntram
[Person:9909229] Brämswig, Jürgen
[Person:9909231] Mühlenberg, Reinhard
[Person:9909235] Sarda, Pierre
[Person:9909234] Sikiric, Alma
[Person:8848064] Anyane-Yeboa, Kwame
[Person:6787430] Zeharia, Avraham
[Person:9909214] Ahmad, Arsalan
[Person:9823092] Coubes, Christine
[Person:5609964] Wada, Yoshinao
[Person:449218] Marquardt, T
[Person:5609954] Vanderschaeghe, Dieter
[Person:198497] Van Schaftingen, Emile
[Person:9909233] Kurth, Ingo
[Person:9707854] Huebner, Angela
[Person:2471695] Hübner, Christian A |
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| created | [InstanceEdit:9909224] D'Eustachio, Peter, 2024-04-30 |
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| journal | Am J Hum Genet |
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| modified | [InstanceEdit:9909236] D'Eustachio, Peter, 2024-04-30 |
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| pages | 727-34 |
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| pubMedIdentifier | 24035193 |
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| title | Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction |
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| volume | 93 |
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| year | 2013 |
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| (literatureReference) | [Reaction:446221] GMPPB converts Mannose-1-phosphate to GDP-Mannose [Homo sapiens] |
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No pathways have been reviewed or authored by Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction (9909225)
