Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_assertion description "[Two ARH mutations, a frameshift mutation (c432insA) in exon 4 (ARH1) and a nonsense mutation (c65G-->A) in exon 1 (ARH2), were present in all of the 17 unrelated families with ARH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_assertion evidence source_evidence_literature NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_assertion SIO_000772 11897284 NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_assertion wasDerivedFrom befree-20140225 NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_assertion wasGeneratedBy ECO_0000203 NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP925553.RAYDiVMMh2VTTBZLuP24yi3q01v_ccEtUn3JzFAtIw7XM130_provenance.