Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_assertion wasGeneratedBy ECO_0000203 NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_assertion wasDerivedFrom befree-20140225 NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_assertion SIO_000772 16919951 NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_assertion evidence source_evidence_literature NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_assertion description "[Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.
- befree-20140225 importedOn "2014-02-25" NP493110.RATi9C6QF0Jmle_PhyVLu3NAuixZt0QQ0GvlAJwjfoZ_I130_provenance.