Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP223607.RAp92uqU5KC1mv7UNiplOgU_OAO_5MebdtD6v3bBIJfv4#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in the CNGA3 gene have been associated with complete and incomplete forms of total colour blindness (achromatopsia), a disorder characterized by reduced visual acuity, lack of colour discrimination, photophobia and nystagmus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18445228 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.