Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion> ?p ?o ?g. }
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- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion type Assertion NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_head.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_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." NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion evidence source_evidence_literature NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion SIO_000772 17277342 NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion wasDerivedFrom befree-2016 NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion wasGeneratedBy ECO_0000203 NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.