Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_assertion description "[Important advances made in the past year have included identification of KCNJ5 potassium channel mutations in the pathogenesis of both aldosterone-producing adenomas and familial hyperaldosteronism type III; characterization of phosphodiesterase 11A as a modifier of phenotype in Carney complex caused by protein kinase, cAMP-dependent, regulatory subunit, type-I mutations; the finding of 11?-hydroxysteroid dehydrogenase type I mutations as a novel mechanism for cortisone reductase deficiency; and demonstration of potential mortality benefit in pursuing comprehensive presymptomatic screening for patients with Li-Fraumeni syndrome, including possible reduction in risks associated with adrenocortical carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_assertion evidence source_evidence_literature NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_assertion SIO_000772 22476103 NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_assertion wasDerivedFrom befree-20140225 NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_assertion wasGeneratedBy ECO_0000203 NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP394524.RAZwfxdID7DFusTxWyUoltrt-3sPJA-vdDqy_2gyBRDAc130_provenance.