Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_assertion type Assertion NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_head.
- NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_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." NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_provenance.
- NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_assertion evidence source_evidence_literature NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_provenance.
- NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_assertion SIO_000772 22476103 NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_provenance.
- NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_assertion wasDerivedFrom befree-20150227 NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_provenance.
- NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_assertion wasGeneratedBy ECO_0000203 NP899122.RAd4kG0dCO3q3m-c0sTToc4uIiS0BEXy5PYpBG8ExDZ6U130_provenance.