@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:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_head { this: np:hasAssertion dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_assertion; np:hasProvenance dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_provenance; np:hasPublicationInfo dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_publicationInfo; a np:Nanopublication . dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_assertion a np:Assertion . dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_provenance a np:Provenance . dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_publicationInfo a np:PublicationInfo . } dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_assertion { miriam-gene:4968 a ncit:C16612 . lld:C0043346 a ncit:C7057 . dgn-gda:DGN3abaffad3ccad65b086dcd2593c38a52 sio:SIO_000628 miriam-gene:4968, lld:C0043346; a sio:SIO_001122 . } dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_provenance { dgn-np:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_assertion dcterms:description "[In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients.]. 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:18809580; 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:NP694422.RAvh7NgEmAet2dDjm0Qceo18OKOFmkM-8n1UKtXemCjrM130_publicationInfo { this: dcterms:created "2016-05-13T12:47:00+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" . }