Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_assertion description "[Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_assertion evidence source_evidence_literature NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_assertion SIO_000772 10655546 NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_assertion wasDerivedFrom befree-20140225 NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_assertion wasGeneratedBy ECO_0000203 NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP168657.RACH_zV0PePhiv1cz8JG7iOx5IayeEpgrKmWA4eTeljgk130_provenance.