Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion> ?p ?o ?g. }
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- NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion type Assertion NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_head.
- NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion wasGeneratedBy ECO_0000203 NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_provenance.
- NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion wasDerivedFrom befree-2016 NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_provenance.
- NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion SIO_000772 21343304 NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_provenance.
- NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion evidence source_evidence_literature NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_provenance.
- NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_assertion description "[A single mutation (C73R) in the enzyme uroporphyrinogen III synthase (UROIIIS) is responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria (CEP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP874281.RACyXxXMefoqH-Y8gzVxDyVqxqp65YKeGityIdx5vqCrc130_provenance.