@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:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_head { this: np:hasAssertion dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_assertion; np:hasProvenance dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_provenance; np:hasPublicationInfo dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_publicationInfo; a np:Nanopublication . dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_assertion a np:Assertion . dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_provenance a np:Provenance . dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_publicationInfo a np:PublicationInfo . } dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_assertion { miriam-gene:1294 a ncit:C16612 . lld:C0079474 a ncit:C7057 . dgn-gda:DGN716b4a033a4534c34dd2d0bf8c508637 sio:SIO_000628 miriam-gene:1294, lld:C0079474; a sio:SIO_001121 . } dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_provenance { dgn-np:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_assertion dcterms:description "[Linkage analyses in generalized recessive dystrophic epidermolysis bullosa (RDEB) have implicated the type VII collagen gene (COL7A1), which encodes the major component of anchoring fibrils, and recent identification of COL7A1 mutations has provided direct evidence for COL7A1 defects underlying RDEB.]. 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:7706758; 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:NP326517.RA1hjT23JhvXCuapSR2kWQMPPDQrQRJaPG5fKip9Xk4Rg130_publicationInfo { this: dcterms:created "2014-10-02T12:35:11+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" . }