| http://purl.uniprot.org/citations/19966803 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19966803 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19966803 | http://www.w3.org/2000/01/rdf-schema#comment | "Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.497"xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.497"xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Pennacchio L.A."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Pennacchio L.A."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Wittinghofer A."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Wittinghofer A."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Horn D."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Horn D."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Rossi C."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Rossi C."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Gremer L."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Gremer L."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Dentici M.L."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Dentici M.L."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Tartaglia M."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Tartaglia M."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Mundlos S."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Mundlos S."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Roberts A.E."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Roberts A.E."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Dallapiccola B."xsd:string |
| http://purl.uniprot.org/citations/19966803 | http://purl.uniprot.org/core/author | "Dallapiccola B."xsd:string |