Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_assertion> ?p ?o ?g. }
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- NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_assertion type Assertion NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_head.
- NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_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." NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_provenance.
- NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_assertion evidence source_evidence_literature NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_provenance.
- NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_assertion SIO_000772 18978954 NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_provenance.
- NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_assertion wasDerivedFrom befree-20140225 NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_provenance.
- NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_assertion wasGeneratedBy ECO_0000203 NP893752.RAYWr5JCBizyXQ4pOxcxP0WAyyeAXkdkGA1fEmxhA91i8130_provenance.