http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_head
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_assertion
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_assertion
http://identifiers.org/ncbigene/2074
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/C0031763
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/resource/gda/DGN561804968a0c7cf5c9e083f76c62570b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2074
http://rdf.disgenet.org/resource/gda/DGN561804968a0c7cf5c9e083f76c62570b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0031763
http://rdf.disgenet.org/resource/gda/DGN561804968a0c7cf5c9e083f76c62570b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_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/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18183039
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v3.0.0/void/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/dc/terms/created
2015-08-25T14:41:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP382870.RAsjaRd792f67bCkK11wOoAjruT48zH_P2IfLvblYUkQc
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0