Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_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." NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_assertion evidence source_evidence_literature NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_assertion SIO_000772 14722913 NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_assertion wasDerivedFrom befree-20140225 NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_assertion wasGeneratedBy ECO_0000203 NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.
- befree-20140225 importedOn "2014-02-25" NP169084.RAXe6gTMItvcYJn7FjNDqYBmMar3FMFsoV8AinfhV-rws130_provenance.