@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:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_head { this: np:hasAssertion dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_assertion; np:hasProvenance dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_provenance; np:hasPublicationInfo dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_publicationInfo; a np:Nanopublication . dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_assertion a np:Assertion . dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_provenance a np:Provenance . dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_assertion { miriam-gene:1294 a ncit:C16612 . lld:C0007137 a ncit:C7057 . dgn-gda:DGNa05215304769ad26d11acedf13b346ca sio:SIO_000628 miriam-gene:1294, lld:C0007137; a sio:SIO_001121 . } dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_provenance { dgn-np:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_assertion dcterms:description "[Patients with recessive dystrophic epidermolysis bullosa (RDEB) lack functional type VII collagen owing to mutations in the gene COL7A1 and suffer severe blistering and chronic wounds that ultimately lead to infection and development of lethal squamous cell carcinoma.]. 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:25429056; 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:NP1240650.RAlgmf5LliPItYA4XVbJHGHyVA5vz9DcfK6ggnWzeFwl8130_publicationInfo { this: dcterms:created "2016-05-13T12:51:08+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" . }