Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_assertion description "[We report a novel truncating mutation in DFNB31 associated with severe rod-cone dystrophy and varying degrees of hearing impairment in a consanguineous family of Portuguese origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_assertion evidence source_evidence_literature NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_assertion SIO_000772 21738389 NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_assertion wasDerivedFrom befree-20140225 NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_assertion wasGeneratedBy ECO_0000203 NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP852662.RA0GlXLyw5x5hGn4Zk06QtDjkTlR8b_uPikonJmLj1iqM130_provenance.