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- source_evidence_literature type ECO_0000212 NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_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." NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_assertion evidence source_evidence_literature NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_assertion SIO_000772 16645216 NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_assertion wasDerivedFrom befree-2016 NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_assertion wasGeneratedBy ECO_0000203 NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.
- befree-2016 importedOn "2016-02-19" NP547277.RAp89NT3FbMuWkDcW2P9MkQn-GYH8T3SUe0o93cO5AxqE130_provenance.