http://purl.uniprot.org/citations/25454926 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25454926 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25454926 | http://www.w3.org/2000/01/rdf-schema#comment | "Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jpeds.2014.10.015"xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jpeds.2014.10.015"xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Yamaguchi Y."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Yamaguchi Y."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Kosaki K."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Kosaki K."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Takenouchi T."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Takenouchi T."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Okano H."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Okano H."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Kosaki R."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Kosaki R."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Tanikawa A."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/author | "Tanikawa A."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/name | "J. Pediatr."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/name | "J. Pediatr."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/pages | "483-486"xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/pages | "483-486"xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/title | "Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation."xsd:string |
http://purl.uniprot.org/citations/25454926 | http://purl.uniprot.org/core/title | "Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation."xsd:string |