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- source_evidence_literature type ECO_0000212 NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_assertion description "[All of our patients carried autosomal recessive mutations in ETFDH, suggesting that ETFDH deficiency leads to a secondary CoQ10 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_assertion evidence source_evidence_literature NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_assertion SIO_000772 17412732 NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_assertion wasDerivedFrom befree-20150227 NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_assertion wasGeneratedBy ECO_0000203 NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP386055.RA_xqCjP2FcbZ-IunQa6hRphBC8rjVsW4i6cV7SqNHCqk130_provenance.