Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_assertion> ?p ?o ?g. }
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- NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_assertion type Assertion NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_head.
- NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_assertion description "[The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_provenance.
- NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_assertion evidence source_evidence_literature NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_provenance.
- NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_assertion SIO_000772 23266623 NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_provenance.
- NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_assertion wasDerivedFrom befree-20140225 NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_provenance.
- NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_assertion wasGeneratedBy ECO_0000203 NP685045.RAC9FNT3KkXsT5F5d-x2FZIhGFgMpcIfERgyOaQGxSLSQ130_provenance.