Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion> ?p ?o ?g. }
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- NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion type Assertion NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_head.
- NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion description "[Mutations in the type IV collagen gene, COL4A5, are associated with Alport syndrome, characterized by ultrastructural abnormalities of the glomerular basement membrane (GBM), with or without progressive loss of renal function, characteristic ophthalmic signs and/or high tone sensorineural deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance.
- NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion evidence source_evidence_literature NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance.
- NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion SIO_000772 17277342 NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance.
- NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion wasDerivedFrom befree-20140225 NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance.
- NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion wasGeneratedBy ECO_0000203 NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance.