Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_assertion description "[A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_assertion evidence source_evidence_curated NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_assertion SIO_000772 16685646 NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_assertion wasDerivedFrom ctd_human-20130708 NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_assertion wasGeneratedBy ECO_0000218 NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP7553.RADwWvr57hKcA546lzrB1nY9VHb6XCNb-njxUGKGr-4GQ130_provenance.