Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_assertion description "[Transient expression of the fsL178, L261X, and M382I mutations in COS-1 cells demonstrated that these lesions did not produce catalytically active ASM, consistent with the severe neuronopathic Type A NPD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_assertion evidence source_evidence_literature NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_assertion SIO_000772 1618760 NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_assertion wasDerivedFrom befree-20140225 NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_assertion wasGeneratedBy ECO_0000203 NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP283493.RAQ9WzcTpheNzV3C6PtWVVnYq-IMZ78Lmpau0qFTE9co0130_provenance.