http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#head http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#assertion http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#provenance http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#assertion http://rdf.disgenet.org/resource/gda/DGN3b03805a6996288716edb7ba41abda69 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/267004 http://rdf.disgenet.org/resource/gda/DGN3b03805a6996288716edb7ba41abda69 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1857276 http://rdf.disgenet.org/resource/gda/DGN3b03805a6996288716edb7ba41abda69 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#provenance http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#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/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18183039 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/dc/terms/created 2017-10-17T13:19:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1421351.RAflFyi38ew7usZNEJdy-qt0LqL0BlzuvwljIFo8jW5yk http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0