@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:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_head { this: np:hasAssertion dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion; np:hasProvenance dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_provenance; np:hasPublicationInfo dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_publicationInfo; a np:Nanopublication . dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion a np:Assertion . dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_provenance a np:Provenance . dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_publicationInfo a np:PublicationInfo . } dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion { miriam-gene:2261 a ncit:C16612 . lld:C0410529 a ncit:C7057 . dgn-gda:DGNbba8d06e93ee5de5c081a7c319f8f4a8 sio:SIO_000628 miriam-gene:2261, lld:C0410529; a sio:SIO_001121 . } dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_provenance { dgn-np:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_assertion dcterms:description "[The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia.]. 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:9450868; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1387975.RA3-6Er1VjY6BfgcAn3yAm9Nk0IChrgUEoi6IuKNC5BKE130_publicationInfo { this: dcterms:created "2016-05-13T12:52:15+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }