Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_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." NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_assertion evidence source_evidence_curated NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_assertion SIO_000772 9837812 NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_assertion wasDerivedFrom uniprot-20130724 NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_assertion wasGeneratedBy ECO_0000218 NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4429.RALKlvbiOutF9Vkl-uB9pgukjjSvhC0YAxcViPThqxSMU130_provenance.