@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:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_head { this: np:hasAssertion dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_assertion; np:hasProvenance dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_provenance; np:hasPublicationInfo dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_publicationInfo; a np:Nanopublication . dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_assertion a np:Assertion . dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_provenance a np:Provenance . dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_publicationInfo a np:PublicationInfo . } dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_assertion { miriam-gene:8195 a ncit:C16612 . lld:C0010495 a ncit:C7057 . dgn-gda:DGNff7c07f22e0803cef62e47b6846c81f3 sio:SIO_000628 miriam-gene:8195, lld:C0010495; a sio:SIO_001121 . } dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_provenance { dgn-np:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_assertion dcterms:description "[We recently observed an Italian boy with typical KMS associated with cutis laxa, which, to our knowledge, is an uncommon finding in KMS, never reported in more than 350 KMS cases previously described in the literature.]. 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:16227101; 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:NP792449.RAAuP5_QVFAfcIELZZaW9cERs7HiTw_CmtzmptKqGUaLU130_publicationInfo { this: dcterms:created "2015-08-25T14:45:39+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" . }