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- source_evidence_literature type ECO_0000212 NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_assertion description "[This observation identifies ACO2 as the second gene responsible for non-syndromic autosomal recessive optic neuropathies and provides evidence for a genetic overlap between isolated and syndromic forms, giving further support to the view that optic atrophy is a hallmark of defective mitochondrial energy supply.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_assertion evidence source_evidence_literature NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_assertion SIO_000772 25351951 NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_assertion wasDerivedFrom befree-2016 NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_assertion wasGeneratedBy ECO_0000203 NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1233339.RAt0XhD4czH2IYU-0RxfXhFr20VE6wlIrD8P8ysdACUtE130_provenance.