Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_assertion description "[De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_assertion evidence source_evidence_curated NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_assertion SIO_000772 24337657 NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_assertion wasDerivedFrom uniprot-20150221 NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_assertion wasGeneratedBy ECO_0000218 NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3093.RAldG4NNSCqU4CbnqUNtq6KGx0JJ_SORPTy8TKLCPGtTU130_provenance.