Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1429223.RAPXScmAHPl-lTLpQW70S3g6Wg6JsW3-5Ta89GTfXKCK8#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18978954 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.