| http://purl.uniprot.org/citations/19438935 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19438935 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19438935 | http://www.w3.org/2000/01/rdf-schema#comment | "Noonan-like/multiple giant cell lesion syndrome is a rare condition with phenotypic overlap with Noonan syndrome (NS) and cherubism. PTPN11 gene mutations were described in several individuals with this phenotype, and it is recently considered as a variant phenotype of NS. Gain-of-function mutations in the SOS1 gene were recently described as the second major cause of NS. Here, we report for the first time the involvement of SOS1 gene in a family with the Noonan-like/multiple giant cell lesion phenotype."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2009.01149.x"xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2009.01149.x"xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Hanna N."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Hanna N."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Vidaud M."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Vidaud M."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Parfait B."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Parfait B."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Elsedfy H.H."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Elsedfy H.H."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Talaat I.M."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/author | "Talaat I.M."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/pages | "568-571"xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/pages | "568-571"xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/title | "SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/title | "SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome."xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/volume | "75"xsd:string |
| http://purl.uniprot.org/citations/19438935 | http://purl.uniprot.org/core/volume | "75"xsd:string |