Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_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." NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_assertion evidence source_evidence_curated NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_assertion SIO_000772 14729820 NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_assertion wasDerivedFrom ctd_human-20150221 NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_assertion wasGeneratedBy ECO_0000218 NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP23597.RA9Vp7ZvF6GCHy-GHd0aF_-5NvS16x9jp-PXLy34wNLZE130_provenance.