Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_assertion description "[Recently, OCA4 was described as a new form of OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_assertion evidence source_evidence_literature NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_assertion SIO_000772 14722913 NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_assertion wasDerivedFrom befree-20140225 NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_assertion wasGeneratedBy ECO_0000203 NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP308747.RA8KSicF-FW14nwcEJp6832-jG7UhqlVjIifHjROHZgrM130_provenance.