Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_assertion description "[A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_assertion evidence source_evidence_curated NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_assertion SIO_000772 18407550 NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_assertion wasDerivedFrom uniprot-20150221 NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_assertion wasGeneratedBy ECO_0000218 NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP863.RAiyMiar48LIEPuSlUExY3HOMmNTneCLNtoRL83UT3OQ0130_provenance.