@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:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_head { this: np:hasAssertion dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_assertion; np:hasProvenance dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_provenance; np:hasPublicationInfo dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_publicationInfo; a np:Nanopublication . dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_assertion a np:Assertion . dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_provenance a np:Provenance . dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_publicationInfo a np:PublicationInfo . } dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_assertion { miriam-gene:1442 a ncit:C16612 . lld:C1868677 a ncit:C7057 . dgn-gda:DGN4a12c200466d538bea639d48f328793a sio:SIO_000628 miriam-gene:1442, lld:C1868677; a sio:SIO_001121 . } dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_provenance { dgn-np:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_assertion dcterms:description "[Horibata et al recently proposed that all type of CSB mutations result in a defect in UV damage repair that is responsible for the photosensitivity observed in the syndrome, but that only truncated CSB polypeptides generated by nonsense mutations have some additional inhibitory functions in transcription or in oxidative damage repair, which are necessary to lead to the other features of the phenotype.]. 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:18183039; 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:NP332374.RAEnd5EoZwBST5YAedFCarS-bo8U17zOat-Yx7TZT-ngc130_publicationInfo { this: dcterms:created "2015-08-25T14:40:51+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" . }