Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_assertion> ?p ?o ?g. }
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- NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_assertion type Assertion NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_head.
- NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_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." NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_provenance.
- NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_assertion evidence source_evidence_literature NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_provenance.
- NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_assertion SIO_000772 16645216 NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_provenance.
- NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_assertion wasDerivedFrom befree-20140225 NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_provenance.
- NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_assertion wasGeneratedBy ECO_0000203 NP569932.RAyJJ6ixB6VKqqt1x9lSGF5pvGVNR8fjfdRX5Bdymnkic130_provenance.