Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_assertion> ?p ?o ?g. }
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- NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_assertion type Assertion NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_head.
- NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_assertion wasGeneratedBy ECO_0000203 NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_provenance.
- NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_assertion wasDerivedFrom befree-20140225 NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_provenance.
- NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_assertion SIO_000772 1635348 NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_provenance.
- NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_assertion evidence source_evidence_literature NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_provenance.
- NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_assertion description "[Mutations in the COL4A5 collagen gene have been implicated as the primary defect in Alport syndrome, a heritable disorder characterized by sensorineural deafness and glomerulonephritis that progresses to end-stage renal failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP805078.RAKpN0nZn_f8qn6SgClouHkgJLjpPteo9DFfnKNgXdmnE130_provenance.