@prefix dc: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_head { this: np:hasAssertion dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_assertion; np:hasProvenance dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_provenance; np:hasPublicationInfo dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_publicationInfo; a np:Nanopublication . dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_assertion a np:Assertion . dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_provenance a np:Provenance . dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_publicationInfo a np:PublicationInfo . } dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_assertion { miriam-gene:3845 a ncit:C16612 . lld:C0013336 a ncit:C7057 . dgn-gda:DGN9eb3b7464856ce1a562827997285c229 sio:SIO_000628 miriam-gene:3845, lld:C0013336; a sio:SIO_001121 . } dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_provenance { dgn-np:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_assertion dc:description "[We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other developmental abnormalities.]. 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:16921267; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP368183.RABUq55-5fmGp2fi9UXPK50Iprg6LY2AvPKcl8IhR-CvY130_publicationInfo { this: dc:created "2014-10-02T12:35:35+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }