@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:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_head { this: np:hasAssertion dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_assertion; np:hasProvenance dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_provenance; np:hasPublicationInfo dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_publicationInfo; a np:Nanopublication . dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_assertion a np:Assertion . dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_provenance a np:Provenance . dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_publicationInfo a np:PublicationInfo . } dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_assertion { miriam-gene:7276 a ncit:C16612 . lld:C0259749 a ncit:C7057 . dgn-gda:DGNbe975e3363bd53f970b415c4af2bdb0e sio:SIO_000628 miriam-gene:7276, lld:C0259749; a sio:SIO_001121 . } dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_provenance { dgn-np:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_assertion dcterms:description "[The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy.]. 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:17701470; 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:NP923678.RAr61pITFgp-QTmcbcgnv4Mo3x9zpxaz-AIQtqRb4QOto130_publicationInfo { this: dcterms:created "2014-10-02T12:41:26+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" . }