Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_assertion description "[This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_assertion evidence source_evidence_literature NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_assertion SIO_000772 18978954 NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_assertion wasDerivedFrom befree-2016 NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_assertion wasGeneratedBy ECO_0000203 NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.
- befree-2016 importedOn "2016-02-19" NP701250.RAYKkXP_6UH5PXQZeu2vmuECuOoVBRCFlZtE-lWRYXgKk130_provenance.