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Details on Person Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy
| Class:Id | LiteratureReference:9660380 |
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| _displayName | Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy |
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| _timestamp | 2019-09-09 19:47:16 |
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| author | [Person:9660350] Motta, Marialetizia
[Person:9660375] Giancotti, Antonella
[Person:9660384] Mastromoro, Gioia
[Person:9660377] Chandramouli, Balasubramanian
[Person:9660386] Pinna, Valentina
[Person:9651014] Pantaleoni, Francesca
[Person:9660376] Di Giosaffatte, Niccolò
[Person:5615616] Petrini, Stefania
[Person:9660387] Mazza, Tommaso
[Person:9660385] D'Ambrosio, Valentina
[Person:9660383] Versacci, Paolo
[Person:9660378] Ventriglia, Flavia
[Person:9660381] Chillemi, Giovanni
[Person:9660379] Pizzuti, Antonio
[Person:2060728] Tartaglia, M
[Person:6801880] De Luca, Alessandro |
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| created | [InstanceEdit:9660382] Rothfels, Karen, 2019-09-09 |
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| journal | Hum. Mutat. |
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| pages | 1046-1056 |
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| pubMedIdentifier | 31059601 |
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| title | Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy |
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| volume | 40 |
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| year | 2019 |
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| (literatureReference) | [Pathway:9660537] Signaling by MRAS-complex mutants [Homo sapiens]
[Reaction:9660538] Mutant MRAS:SHOC2:PPP1CC complexes dephosphorylate inactive RAFs [Homo sapiens]
[EntityWithAccessionedSequence:9660464] SHOC2 Q269_H270delinsHY [cytosol] [Homo sapiens] |
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