Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_assertion description "[Most importantly, we discovered that TRRAP harbored a recurrent mutation that clustered in one position (p. Ser722Phe) in 6 out of 167 affected individuals (?4%), as well as a previously unidentified gene, GRIN2A, which was mutated in 33% of melanoma samples.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_assertion evidence source_evidence_literature NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_assertion SIO_000772 21499247 NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_assertion wasDerivedFrom befree-20140225 NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_assertion wasGeneratedBy ECO_0000203 NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP922963.RAhftLCCA2BHVhCpyrvwQEhhidh7HXTVplxM23f1ibzVI130_provenance.