Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_assertion description "[Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_assertion evidence source_evidence_literature NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_assertion SIO_000772 11955452 NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_assertion wasDerivedFrom befree-20140225 NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_assertion wasGeneratedBy ECO_0000203 NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP220430.RAszIVW5NCZEi8NMRVxGUOCXEaQbj374XBp7IquuIHrBg130_provenance.