@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:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_head { this: np:hasAssertion dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_assertion; np:hasProvenance dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_provenance; np:hasPublicationInfo dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_publicationInfo; a np:Nanopublication . dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_assertion a np:Assertion . dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_provenance a np:Provenance . dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_publicationInfo a np:PublicationInfo . } dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_assertion { miriam-gene:5351 a ncit:C16612 . lld:C0013720 a ncit:C7057 . dgn-gda:DGNb30a5b91b25af428bda3f71047777493 sio:SIO_000628 miriam-gene:5351, lld:C0013720; a sio:SIO_001121 . } dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_provenance { dgn-np:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_assertion dcterms:description "[Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity).]. 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:8217561; 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:NP631323.RAG0mwD5pUVUUbW3Ulx7FIenRrM2pkDDlDio27yFfxpTY130_publicationInfo { this: dcterms:created "2015-08-25T14:43:58+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" . }