Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP746411.RAmOClx_sg1yZW5moEhHXcH5-e0pxtW7oCCzKI6X7Ns4U#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion SIO_000772 14729820 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[While mutations in the NDUFS3 gene thus result in Leigh syndrome, a dissimilar clinical phenotype is observed in mutations in the NDUFV2 and NDUFS2 genes, resulting in encephalomyopathy and cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.