Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_assertion type Assertion NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_head.
- NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_assertion description "[Patients with biallelic mutations in CYP24A1 present with severe hypercalcemia and nephrocalcinosis in infancy or hypercalciuria, kidney stones, and nephrocalcinosis in adulthood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_provenance.
- NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_assertion evidence source_evidence_literature NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_provenance.
- NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_assertion SIO_000772 25446019 NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_provenance.
- NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_assertion wasDerivedFrom befree-2016 NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_provenance.
- NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_assertion wasGeneratedBy ECO_0000203 NP1242053.RAjA9WOz9gj2-NYsJMia0xNFWJC3XNpPPbo3VbJRWXW60130_provenance.