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- source_evidence_literature type ECO_0000212 NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_assertion description "[Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of oxidative phosphorylation defects classified as pontocerebellar hypoplasia 6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_assertion evidence source_evidence_literature NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_assertion SIO_000772 22569581 NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_assertion wasDerivedFrom befree-2016 NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_assertion wasGeneratedBy ECO_0000203 NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.
- befree-2016 importedOn "2016-02-19" NP980586.RAvyHA6Kyi1vtCRzeAUY2ViXWx4OfeClyYme7CtgUpulw130_provenance.