Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_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." NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_assertion evidence source_evidence_literature NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_assertion SIO_000772 18445228 NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_assertion wasDerivedFrom befree-20150227 NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_assertion wasGeneratedBy ECO_0000203 NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_provenance.