Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_assertion> ?p ?o ?g. }
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- NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_assertion type Assertion NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_head.
- NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_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." NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_provenance.
- NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_assertion evidence source_evidence_literature NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_provenance.
- NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_assertion SIO_000772 17277342 NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_provenance.
- NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_assertion wasDerivedFrom befree-2016 NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_provenance.
- NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_assertion wasGeneratedBy ECO_0000203 NP592244.RA87mOn1Z0YlVgk2qOP8Y5JnmgrZOWr55qDe47Ks6kx3A130_provenance.