Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_assertion description "[We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_assertion evidence source_evidence_curated NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_assertion SIO_000772 22544365 NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_assertion wasDerivedFrom ctd_human-20130708 NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_assertion wasGeneratedBy ECO_0000218 NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP15203.RALTMojgW-KoXdU5yHrIza7n1kRww8bkMDOlOVj9G-IY4130_provenance.