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- source_evidence_literature type ECO_0000212 NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_assertion description "[We report a patient in whom renal cancer was detected at the age of 11 years at his first routine screening imaging after he was found to carry a fumarate hydratase gene mutation (c.1189G > A) transmitted from his mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_assertion evidence source_evidence_literature NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_assertion SIO_000772 19967458 NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_assertion wasDerivedFrom befree-20150227 NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_assertion wasGeneratedBy ECO_0000203 NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP402589.RAfWpCQ2OLEqA9d-DmRLiu2jx4eMsG8X_XHiVEJQMzxeQ130_provenance.