Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_assertion description "[Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_assertion evidence source_evidence_curated NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_assertion SIO_000772 12928484 NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_assertion wasDerivedFrom uniprot-20150221 NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_assertion wasGeneratedBy ECO_0000218 NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3409.RA68bCaluLj1Vh8yqM7GI0tNNmizuAU2UHAXBtKSq1hYU130_provenance.