Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_assertion> ?p ?o ?g. }
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- NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_assertion type Assertion NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_head.
- NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_assertion description "[Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) was recently shown to be caused by mutations in the DARS2 gene, encoding a mitochondrial aspartyl-tRNA synthetase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_provenance.
- NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_assertion evidence source_evidence_literature NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_provenance.
- NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_assertion SIO_000772 21749991 NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_provenance.
- NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_assertion wasDerivedFrom befree-20140225 NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_provenance.
- NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_assertion wasGeneratedBy ECO_0000203 NP762247.RAksOlPpqo437MBBxMOVP63Rjsz3sFQ0p7lTGC2RMleJc130_provenance.