Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_assertion> ?p ?o ?g. }
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- NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_assertion type Assertion NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_head.
- NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_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." NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_provenance.
- NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_assertion evidence source_evidence_literature NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_provenance.
- NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_assertion SIO_000772 21749991 NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_provenance.
- NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_assertion wasDerivedFrom befree-2016 NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_provenance.
- NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_assertion wasGeneratedBy ECO_0000203 NP909078.RAzaFeJKBUIJjhR8YEFdectbxL0uLBeEWm88axA5BHUJM130_provenance.