Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_assertion description "[The 3243A>G mutation in the MTTL1 (tRNA(Leu)) gene and the 8344A>G mutation in the MTTK (tRNA(Lys)) gene are the most common mutations found in mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes and myoclonic epilepsy associated with ragged-red fibers, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_assertion evidence source_evidence_literature NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_assertion SIO_000772 16645216 NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_assertion wasDerivedFrom befree-20140225 NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_assertion wasGeneratedBy ECO_0000203 NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP308514.RAfefRPd3xnXoHPiNINAV0fby1_uVwk5E0xCDbTp2MRRM130_provenance.