Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_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." NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_assertion evidence source_evidence_literature NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_assertion SIO_000772 18445228 NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_assertion wasDerivedFrom befree-20140225 NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_assertion wasGeneratedBy ECO_0000203 NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.
- befree-20140225 importedOn "2014-02-25" NP812348.RAWrcOeJYTR1cACLW6tF5n57y-02xxnVWcJer-ZSpJPew130_provenance.