http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_head http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_provenance http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://identifiers.org/ncbigene/2965 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/C1955934 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/DGNfd134a7fe97b44eac91f9c3dfcd49101 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2965 http://rdf.disgenet.org/resource/gda/DGNfd134a7fe97b44eac91f9c3dfcd49101 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1955934 http://rdf.disgenet.org/resource/gda/DGNfd134a7fe97b44eac91f9c3dfcd49101 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_provenance http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://purl.org/dc/terms/description [Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14726016 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/dc/terms/created 2016-05-13T12:44:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP428131.RAFSAeiYyNjj4_P9-lxO8BXAEQuoOuIf2cgVzW5DOZMCA http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0