Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_assertion description "[In this study, we report a novel missense SOD1 mutation with a substitution of tryptophan for cysteine at the seventh amino acid (p.C7W, traditionally named p.C6W) based on HUGO Gene Nomenclature in a familial ALS pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_assertion evidence source_evidence_literature NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_assertion SIO_000772 24094577 NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_assertion wasDerivedFrom befree-2016 NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_assertion wasGeneratedBy ECO_0000203 NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1116230.RAqmM8BufYLn6ViQXJIArrSg1_lZz7-ObW8sT3ojlpKnA130_provenance.