http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#head
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#assertion
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#provenance
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#assertion
http://rdf.disgenet.org/resource/gda/DGNd75ba9f092bccf52000a67557d097917
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4331
http://rdf.disgenet.org/resource/gda/DGNd75ba9f092bccf52000a67557d097917
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268138
http://rdf.disgenet.org/resource/gda/DGNd75ba9f092bccf52000a67557d097917
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001123
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#provenance
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#assertion
http://purl.org/dc/terms/description
[Indeed, this mutation not only affects the interaction with the MAT1 CAK subunit, thereby decreasing the in vitro basal transcription activity of TFIIH itself and impeding the efficient recruitment of the transcription machinery on the promoter of an activated gene, but also impairs the DNA unwinding activity of XPD and the nucleotide excision repair activity of TFIIH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#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/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23382212
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#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/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/dc/terms/created
2017-10-17T13:14:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP704719.RAt1s0jEW80_YpK8NZxzcLc18syrdkS0leZJsg5aiDkh8
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