@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:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_head { this: np:hasAssertion dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_assertion; np:hasProvenance dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_provenance; np:hasPublicationInfo dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_publicationInfo; a np:Nanopublication . dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_assertion a np:Assertion . dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_provenance a np:Provenance . dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_publicationInfo a np:PublicationInfo . } dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_assertion { miriam-gene:2068 a ncit:C16612 . lld:C0031763 a ncit:C7057 . dgn-gda:DGNf8e4264a19a5f15db58bb17d71d28e18 sio:SIO_000628 miriam-gene:2068, lld:C0031763; a sio:SIO_001121 . } dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_provenance { dgn-np:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_assertion dcterms:description "[We have determined the mutations and the pattern of inheritance of the XPD alleles in the 11 cases identified in Italy so far, in which the hair abnormalities diagnostic for TTD are associated with different disease severity but similar cellular photosensitivity.]. 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:9758621; 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:NP381932.RADeXhF_H9Wc7VaTCPfmfTddnRBCinKmB49uwhQLsiiNE130_publicationInfo { this: dcterms:created "2015-08-25T14:41:21+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" . }