Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_assertion description "[A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_assertion evidence source_evidence_literature NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_assertion SIO_000772 17653047 NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_assertion wasDerivedFrom befree-20140225 NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_assertion wasGeneratedBy ECO_0000203 NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP371222.RA7VcDi29RcmlerUfsS8dnb5FeqYFXsY_fmxVEsfOTIdY130_provenance.