@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:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_head { this: np:hasAssertion dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_assertion; np:hasProvenance dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_provenance; np:hasPublicationInfo dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_publicationInfo; a np:Nanopublication . dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_assertion a np:Assertion . dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_provenance a np:Provenance . dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_publicationInfo a np:PublicationInfo . } dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_assertion { miriam-gene:4069 a ncit:C16612 . lld:C0281479 a ncit:C7057 . dgn-gda:DGNc76972574913c1215375638d75e007b6 sio:SIO_000628 miriam-gene:4069, lld:C0281479; a sio:SIO_001122 . } dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_provenance { dgn-np:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_assertion dcterms:description "[Naturally occurring single mutants, I56T, F57I, W64R and D67H of lysozyme in human, have been known to form abnormal protein aggregates (amyloid fibrils) and to accumulate in several organs, including the liver, spleen and kidney, resulting in familial systemic amyloidosis.]. 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:25659958; 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:NP1261817.RAIWmiScjornurW-9w6kJhhEZdG_DYfVaWROymKEvcQkc130_publicationInfo { this: dcterms:created "2016-05-13T12:51:18+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" . }