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Query author contributions in Reactome

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Details on Person acrocephalosyndactylia

Class:IdDisease:2011822
_displayNameacrocephalosyndactylia
_timestamp2011-11-22 14:40:10
created[InstanceEdit:2011821] Rothfels, K, 2011-11-22
definitionA synostosis that results_in craniosynostosis and syndactyly.
identifier12960
nameacrocephalosyndactylia
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymApert syndrome
(disease)[Reaction:2012073] Autocatalytic phosphorylation of FGFR3c P250R mutant [Homo sapiens]
[Reaction:2012074] FGFR3c P250R mutant binds to ligand with enhanced affinity [Homo sapiens]
[Pathway:8851708] Signaling by FGFR2 IIIa TM [Homo sapiens]
[BlackBoxEvent:8851710] Aberrant alternative splicing yields a secreted FGFR2 IIIa TM disease variant [Homo sapiens]
[BlackBoxEvent:8851711] Aberrant alternative splicing generates a soluble disease variant FGFR2 IIIa TM [Mus musculus]
[Reaction:8853320] FGFR2IIIa TM binds ligand and full length receptors to inhibit signaling [Homo sapiens]
[Reaction:8853328] Mouse FGFR2 IIIa TM binds FGF1,2 and full-length receptors [Homo sapiens]
[EntityWithAccessionedSequence:1637916] FGFR2c P253R [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2011846] FGFR2b S252W [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2011851] FGFR2b P253R [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by acrocephalosyndactylia (2011822)