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- source_evidence_literature type ECO_0000212 NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_assertion description "[We report the first germline missense mutation in BHD c.1978A>G (K508R) in a patient who presented with bilateral multifocal renal oncocytomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_assertion evidence source_evidence_literature NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_assertion SIO_000772 18234728 NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_assertion wasDerivedFrom befree-20150227 NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_assertion wasGeneratedBy ECO_0000203 NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.
- befree-20150227 importedOn "2015-02-27" NP979519.RAHdN15nLQfCwv8DwWcNa7Aj6SPZaMLF-YnidrFzpyn8Y130_provenance.