Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_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." NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_assertion evidence source_evidence_literature NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_assertion SIO_000772 17653047 NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_assertion wasDerivedFrom befree-20140225 NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_assertion wasGeneratedBy ECO_0000203 NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP214175.RAItU8mfN1XAvhtJdQJ63TCucnSp4AY7qu6WwpxAuFYxs130_provenance.