Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion wasGeneratedBy ECO_0000203 NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion wasDerivedFrom befree-2016 NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion SIO_000772 8058286 NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion evidence source_evidence_literature NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.
- NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_assertion description "[A mutation in codon 216 of the peripherin/rds gene, resulting in a substitution of the amino acid serine for proline, was found to segregate with retinitis pigmentosa in these two families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1330986.RA-rVSHDoRtE5VO9Ky2EUFtANQ3mJyY0SRuvgMcqLTBjU130_provenance.