Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_assertion description "[Mutations in the ATM gene are responsible for the multisystem disorder ataxia-telangiectasia, characterized by neurodegeneration, immune deficiency and cancer predisposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_assertion evidence source_evidence_literature NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_assertion SIO_000772 9108147 NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_assertion wasDerivedFrom befree-20140225 NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_assertion wasGeneratedBy ECO_0000203 NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP817465.RA9MIwD4EdEwzNMTzLmEo45pBrJdSm9k49IYOkVVnQuOM130_provenance.