Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_assertion> ?p ?o ?g. }
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- NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_assertion type Assertion NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_head.
- NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_assertion description "[Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of oxidative phosphorylation defects classified as pontocerebellar hypoplasia 6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_provenance.
- NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_assertion evidence source_evidence_literature NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_provenance.
- NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_assertion SIO_000772 22569581 NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_provenance.
- NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_assertion wasDerivedFrom befree-2016 NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_provenance.
- NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_assertion wasGeneratedBy ECO_0000203 NP980588.RAdJaCpO1ZbFU825Wqjjz-tYa0yviuG-_dGfdrrrt_UXA130_provenance.