@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:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_head { this: np:hasAssertion dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_assertion; np:hasProvenance dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_provenance; np:hasPublicationInfo dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_publicationInfo; a np:Nanopublication . dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_assertion a np:Assertion . dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_provenance a np:Provenance . dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_publicationInfo a np:PublicationInfo . } dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_assertion { miriam-gene:2261 a ncit:C16612 . lld:C0220658 a ncit:C7057 . dgn-gda:DGN9c498db951fe49476c67e5c878962cca sio:SIO_000628 miriam-gene:2261, lld:C0220658; a sio:SIO_001121 . } dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_provenance { dgn-np:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_assertion dcterms:description "[These results together with our earlier observation that achondroplasia results from constitutive activation of the related receptor FGFR3, leads to the prediction that other malformation syndromes attributed to FGFRs, such as Pfeiffer syndrome and Thanatophoric dysplasia, also arise from constitutive receptor activation.]. 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:8755573; 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:NP699530.RAbqlKFtqonUe1S099A0iOOXd9Al6inFZYs3vgCfG868M130_publicationInfo { this: dcterms:created "2014-10-02T12:39:05+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms: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" . }