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Details on Person Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
| Class:Id | LiteratureReference:2054054 |
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| _displayName | Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 |
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| _timestamp | 2012-01-12 21:59:07 |
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| author | [Person:2032894] Tavormina, PL
[Person:2054011] Shiang, R
[Person:1295579] Thompson, LM
[Person:2054030] Zhu, YZ
[Person:2054026] Wilkin, DJ
[Person:2054000] Lachman, RS
[Person:194685] Wilcox, WR
[Person:195670] Rimoin, David L
[Person:176475] Cohn, DH
[Person:2032903] Wasmuth, JJ |
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| created | [InstanceEdit:2054055] Rothfels, K, 2012-01-12 |
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| journal | Nat Genet |
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| pages | 321-8 |
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| pubMedIdentifier | 7773297 |
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| title | Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 |
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| volume | 9 |
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| year | 1995 |
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| (literatureReference) | [Pathway:1839122] Signaling by activated point mutants of FGFR1 [Homo sapiens]
[Reaction:2012084] Constitutive dimerization of FGFR3 cysteine mutants [Homo sapiens]
[Reaction:2029984] Autocatalytic phosphorylation of FGFR2 ligand-independent mutants [Homo sapiens]
[Pathway:2033519] Activated point mutants of FGFR2 [Homo sapiens]
[Pathway:5655332] Signaling by FGFR3 in disease [Homo sapiens]
[EntityWithAccessionedSequence:1614419] FGFR3 R248C [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614421] FGFR3 S371C [plasma membrane] [Homo sapiens] |
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