@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:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_head { this: np:hasAssertion dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_assertion; np:hasProvenance dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_provenance; np:hasPublicationInfo dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_publicationInfo; a np:Nanopublication . dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_assertion a np:Assertion . dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_provenance a np:Provenance . dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_publicationInfo a np:PublicationInfo . } dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_assertion { miriam-gene:1280 a ncit:C16612 . lld:C0001079 a ncit:C7057 . dgn-gda:DGN6d836053a955ddf52f7aa240b3977941 sio:SIO_000628 miriam-gene:1280, lld:C0001079; a sio:SIO_001121 . } dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_provenance { dgn-np:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_assertion dcterms:description "[Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II.]. 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:17638425; 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:NP319369.RADqYquOEJzHcm_W5cp5RhXHMNvStXCc5yUUwZqBBeo7E130_publicationInfo { this: dcterms:created "2015-08-25T14:40:43+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" . }