Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion> ?p ?o ?g. }
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- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion type Assertion NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_head.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_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." NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion evidence source_evidence_literature NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion SIO_000772 17277342 NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion wasDerivedFrom befree-20140225 NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion wasGeneratedBy ECO_0000203 NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.