Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion wasGeneratedBy ECO_0000203 NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion wasDerivedFrom befree-20140225 NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion SIO_000772 20405026 NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion evidence source_evidence_literature NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_assertion description "[Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP246975.RA5ktdQZG_Ul5yVZRxkFdbS-hUY1iclfYU41AO4gO17tU130_provenance.