Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_assertion wasGeneratedBy ECO_0000218 NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_assertion wasDerivedFrom uniprot-2016 NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_assertion SIO_000772 15001636 NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_assertion evidence source_evidence_curated NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.
- NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_assertion description "[Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3301.RAB-C0x7muh1t-R6FZlSQKnAGK_grbrztTvPxuoJQj3i0130_provenance.