@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:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_head { this: np:hasAssertion dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion; np:hasProvenance dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_provenance; np:hasPublicationInfo dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_publicationInfo; a np:Nanopublication . dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion a np:Assertion . dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_provenance a np:Provenance . dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_publicationInfo a np:PublicationInfo . } dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion { miriam-gene:3861 a ncit:C16612 . lld:C0014527 a ncit:C7057 . dgn-gda:DGNf2dd8d12c1e96a40924dfddfb99b37f9 sio:SIO_000628 miriam-gene:3861, lld:C0014527; a sio:SIO_001121 . } dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_provenance { dgn-np:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_assertion dcterms:description "[The recessive simplex types include EB with muscular dystrophy due to abnormal plectin, EB without muscular dystrophy in patients homozygous for K14 gene abnormalities, and skin fragility syndrome, with formation of acantholytic vesicles within the epidermis due to PKP1 gene mutations.]. 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:12677430; 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:NP239725.RAUHaxJDUf14egqgUKkW3MrX3StV08HaHIpEHOqviLiiY130_publicationInfo { this: dcterms:created "2014-10-02T12:34:14+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" . }