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- source_evidence_literature type ECO_0000212 NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_assertion description "[The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD (autosomal dominant macular degeneration)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_assertion evidence source_evidence_literature NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_assertion SIO_000772 14609921 NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_assertion wasDerivedFrom lhgdn-20090331 NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_assertion wasGeneratedBy ECO_0000203 NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP185513.RAfc2SIRIR06P3HSBhDnIwslOPdue88u8wl7EC5GLnHE0130_provenance.