http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_head http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://identifiers.org/ncbigene/267004 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0393720 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf0261863b3ae6c77f2d16093cd61a6d7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/267004 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf0261863b3ae6c77f2d16093cd61a6d7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0393720 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf0261863b3ae6c77f2d16093cd61a6d7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18183039 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/dc/terms/created 2014-10-02T12:35:28+02:00 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP354393.RAGvXOdZ2srf2_jdLYjGgJ8N0I7vl95fxwgfrbWRyuKWo http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0