Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion wasGeneratedBy ECO_0000203 NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion wasDerivedFrom befree-20140225 NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion SIO_000772 16638984 NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion evidence source_evidence_literature NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion description "[In this family harboring both structural alterations, two patients who carried the GJA1 (Ala253Val) and FOXC1 (Trp152STOP) mutations developed less severe glaucoma compared with family members presenting the FOXC1 (Trp152STOP) mutation alone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance.