@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:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_head { this: np:hasAssertion dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion; np:hasProvenance dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_provenance; np:hasPublicationInfo dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_publicationInfo; a np:Nanopublication . dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion a np:Assertion . dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_provenance a np:Provenance . dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion { miriam-gene:4882 a ncit:C16612 . lld:C0149887 a ncit:C7057 . dgn-gda:DGN430b6af04342a52e5e967f6aaba7f295 sio:SIO_000628 miriam-gene:4882, lld:C0149887; a sio:SIO_001121 . } dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_provenance { dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion dcterms:description "[We identified a four-generation family with an overgrowth syndrome characterized by tall stature, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis, similar to those previously reported in association with CNP/NPR2 overactivity.]. 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:24259409; 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:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_publicationInfo { this: dcterms:created "2016-05-13T12:50:18+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" . }