Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_assertion> ?p ?o ?g. }
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- NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_assertion type Assertion NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_head.
- NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_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." NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_provenance.
- NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_assertion evidence source_evidence_literature NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_provenance.
- NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_assertion SIO_000772 17277342 NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_provenance.
- NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_assertion wasDerivedFrom befree-20140225 NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_provenance.
- NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_assertion wasGeneratedBy ECO_0000203 NP917909.RA7NCQ6miz2yY-0vcGyIMCYNUhb_BKzDqrcwGmCXIB91A130_provenance.