@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_head { this: np:hasAssertion dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion; np:hasProvenance dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_provenance; np:hasPublicationInfo dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_publicationInfo; a np:Nanopublication . dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion a np:Assertion . dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_provenance a np:Provenance . dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_publicationInfo a np:PublicationInfo . } dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion { miriam-gene:3845 a ncit:C16612 . lld:C1275081 a ncit:C7057 . dgn-gda:DGNa8ad3dfc6e325367fbc9c056842062d9 sio:SIO_000628 miriam-gene:3845, lld:C1275081; a sio:SIO_001121 . } dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_provenance { dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_assertion dcterms:description "[Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:22488932; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP528056.RA1YA7MsHAu8GSjTJqM9CuDX3oEV0i8Uc0YdQOEI7teAg130_publicationInfo { this: dcterms:created "2015-08-25T14:42:52+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }