Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_assertion description "[Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_assertion evidence source_evidence_curated NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_assertion SIO_000772 9837812 NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_assertion wasDerivedFrom uniprot-2016 NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_assertion wasGeneratedBy ECO_0000218 NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9971.RA9wXAYWSQjbD1jao891B-66L7cKabxX2vqEFyzFhybcE130_provenance.