http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_head http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_assertion http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_provenance http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_assertion http://identifiers.org/ncbigene/1443 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/DGN343ff1a60b6ad1ed1e314393a46b53a0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1443 http://rdf.disgenet.org/resource/gda/DGN343ff1a60b6ad1ed1e314393a46b53a0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0031763 http://rdf.disgenet.org/resource/gda/DGN343ff1a60b6ad1ed1e314393a46b53a0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_provenance http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_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/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_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/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18183039 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_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/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/dc/terms/created 2015-08-25T14:40:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP332426.RAHxb0LsQPNlBrxaFYgxorzIugWDWhIa_cSHigalizH7U 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