Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_assertion description "[Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_assertion evidence source_evidence_literature NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_assertion SIO_000772 21592869 NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_assertion wasDerivedFrom befree-20140225 NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_assertion wasGeneratedBy ECO_0000203 NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP293629.RAVQhMOIRUNnl6jTcYnx2LG4cylH0Ime7H8ROpTQp5Sv8130_provenance.