Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_assertion description "[Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_assertion evidence source_evidence_curated NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_assertion SIO_000772 10612851 NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_assertion wasDerivedFrom uniprot-2016 NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_assertion wasGeneratedBy ECO_0000218 NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP561.RAVLNs1KR4B0rl2QToUYNG3rjm4augbWGVa5PFq4-zy2o130_provenance.