Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_assertion> ?p ?o ?g. }
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- NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_assertion type Assertion NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_head.
- NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_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." NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_provenance.
- NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_assertion evidence source_evidence_literature NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_provenance.
- NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_assertion SIO_000772 17277342 NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_provenance.
- NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_assertion wasDerivedFrom befree-20140225 NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_provenance.
- NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_assertion wasGeneratedBy ECO_0000203 NP162555.RAVmsoxNCetEaewrrwhhLkk68n63ToTDOjv6G1s8XXJVg130_provenance.