Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_assertion description "[Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause `cone dystrophy with supernormal rod electroretinogram` in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_assertion evidence source_evidence_curated NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_assertion SIO_000772 16909397 NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_assertion wasDerivedFrom uniprot-20130724 NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_assertion wasGeneratedBy ECO_0000218 NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3489.RADCjhYFd65cmPyxCzzRBWSQrNCEh43T0n9Jld822qvRE130_provenance.