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- source_evidence_literature type ECO_0000212 NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_assertion description "[The retinal dystrophy associated with the Pro23Ala mutation is characteristically mild in presentation and course, with greater preservation of ERG amplitudes than the more prevalent Pro23His mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_assertion evidence source_evidence_literature NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_assertion SIO_000772 10980774 NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_assertion wasDerivedFrom befree-2016 NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_assertion wasGeneratedBy ECO_0000203 NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.
- befree-2016 importedOn "2016-02-19" NP294647.RAfd4ULBCry-BvgRq1aDFuyaZf_hvmmlMj4TRMudeAWbI130_provenance.