Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_assertion description "[In blinded specimens and colon cancer cell lines with defined mutations, ColoSeq correctly identified 28/28 (100%) pathogenic mutations in MLH1, MSH2, MSH6, PMS2, EPCAM, APC, and MUTYH, including single nucleotide variants (SNVs), small insertions and deletions, and large copy number variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_assertion evidence source_evidence_literature NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_assertion SIO_000772 22658618 NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_assertion wasDerivedFrom befree-20150227 NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_assertion wasGeneratedBy ECO_0000203 NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.
- befree-20150227 importedOn "2015-02-27" NP240436.RAJ5CGEeUAaSuTzeA8HSG9xtcN7MsYwcvM5r4JERTL3Ns130_provenance.