@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:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_head { this: np:hasAssertion dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_assertion; np:hasProvenance dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_provenance; np:hasPublicationInfo dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_publicationInfo; a np:Nanopublication . dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_assertion a np:Assertion . dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_provenance a np:Provenance . dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_publicationInfo a np:PublicationInfo . } dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_assertion { miriam-gene:2261 a ncit:C16612 . lld:C2674173 a ncit:C7057 . dgn-gda:DGN137ba6126648fc47af8fa5ba380a89bb sio:SIO_000628 miriam-gene:2261, lld:C2674173; a sio:SIO_001121 . } dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_provenance { dgn-np:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_assertion dcterms:description "[Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN.]. 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:21910223; 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:NP512550.RAjT5ZSv9fjzW-dHZ4dDyiZwRRX9xCrAI3AqpG92v85EI130_publicationInfo { this: dcterms:created "2014-10-02T12:37:05+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" . }