Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_assertion type Assertion NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_head.
- NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_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." NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_provenance.
- NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_assertion evidence source_evidence_literature NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_provenance.
- NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_assertion SIO_000772 22476103 NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_provenance.
- NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_assertion wasDerivedFrom befree-20150227 NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_provenance.
- NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_assertion wasGeneratedBy ECO_0000203 NP522472.RAM5uXPIxgVoIceYyS8Tfvcaf6jb2VjPPC1hn8qctKy1g130_provenance.