http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_head http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_assertion http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_provenance http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_assertion http://identifiers.org/ncbigene/404672 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/DGN7800a58050316ffae4bcfb43bbc316d2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/404672 http://rdf.disgenet.org/resource/gda/DGN7800a58050316ffae4bcfb43bbc316d2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1955934 http://rdf.disgenet.org/resource/gda/DGN7800a58050316ffae4bcfb43bbc316d2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_provenance http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_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/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_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/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14726016 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_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/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/dc/terms/created 2016-05-13T12:44:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP428141.RADvrrhDx-CQI2snPFQgIkTXJccL8q6-u_FW_FwI6Y5s8 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