Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_assertion> ?p ?o ?g. }
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- NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_assertion type Assertion NP318342.RAZwx5VOOiH_xOHCD5Hf4Ai5_4MaxcFV02UjP2icjCqKw130_head.
- 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.