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Details on Person Germline gain-of-function mutations in RAF1 cause Noonan syndrome
| Class:Id | LiteratureReference:9655488 |
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| _displayName | Germline gain-of-function mutations in RAF1 cause Noonan syndrome |
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| _timestamp | 2019-07-24 21:08:15 |
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| author | [Person:9655489] Razzaque, M Abdur
[Person:9655490] Nishizawa, Tsutomu
[Person:9655492] Komoike, Yuta
[Person:9655491] Yagi, Hisato
[Person:9655495] Furutani, Michiko
[Person:9655494] Amo, Ryunosuke
[Person:9655500] Kamisago, Mitsuhiro
[Person:9655498] Momma, Kazuo
[Person:6805091] Katayama, Hiroshi
[Person:9655501] Nakagawa, Masao
[Person:3249415] Fujiwara, Yuko
[Person:9655496] Matsushima, Masaki
[Person:9655497] Mizuno, Katsumi
[Person:9655504] Tokuyama, Mika
[Person:9655502] Hirota, Hamao
[Person:9655503] Muneuchi, Jun
[Person:9655499] Higashinakagawa, Toru
[Person:9655505] Matsuoka, Rumiko |
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| created | [InstanceEdit:9655493] Rothfels, Karen, 2019-07-24 |
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| journal | Nat. Genet. |
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| pages | 1013-7 |
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| pubMedIdentifier | 17603482 |
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| title | Germline gain-of-function mutations in RAF1 cause Noonan syndrome |
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| volume | 39 |
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| year | 2007 |
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| (literatureReference) | [EntityWithAccessionedSequence:9656058] p-S338,Y341,T492,S494,S621 RAF1 S257L [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656080] p-S338,Y341,T492,S494,S621 RAF1 V263A [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656121] p-S621-RAF1 S257L [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656148] p-S621-RAF1 V263A [cytosol] [Homo sapiens]
[FailedReaction:9656207] CR2 RAF1 mutants don't bind YWHAB [Homo sapiens]
[Reaction:9656212] Phosphorylation of RAF1 mutants [Homo sapiens]
[Reaction:9656213] RAF1 mutants show enhanced heterodimerization with BRAF [Homo sapiens]
[Reaction:9656214] MAP2Ks phosphorylate MAPKs downstream of RAF1 mutants [Homo sapiens]
[Reaction:9656215] RAF1 mutant complexes phosphorylate MAP2K dimer [Homo sapiens] |
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