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- source_evidence_literature type ECO_0000212 NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_assertion description "[The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_assertion evidence source_evidence_literature NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_assertion SIO_000772 23266623 NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_assertion wasDerivedFrom befree-2016 NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_assertion wasGeneratedBy ECO_0000203 NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1038583.RA8wOcr90NFGojC4rrLkCqgr_yzvfQUpa0HNU6Vx96Jpc130_provenance.