Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- befree-2016 importedOn "2016-02-19" NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_assertion wasGeneratedBy ECO_0000203 NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_assertion wasDerivedFrom befree-2016 NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_assertion SIO_000772 23301511 NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_assertion evidence source_evidence_literature NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.
- NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_assertion description "[Three cases with m.8993T>G mutation, two patients with the novel m.5523T>G and m.5559A>G mutations in the tRNA(Trp) gene, and two individuals with the undescribed m.9478T>C mutation in the cytochrome c oxidase subunit III (COXIII) gene were found with LS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1042218.RABOYDNGpA1EBpWzqtr7j9JG3NkO2c8H5Xm-nLNyVJDUs130_provenance.