Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_assertion description "[Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_assertion evidence source_evidence_curated NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_assertion SIO_000772 15198992 NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_assertion wasDerivedFrom uniprot-20130724 NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_assertion wasGeneratedBy ECO_0000218 NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP146.RAFN4n_eCKLDOwj85saZsqc1PNJhoGqo-AgZNas-M3uZM130_provenance.