Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_assertion description "[Here we use the three-dimensional structure of AGA to predict structural consequences of AGU mutations, including six novel mutations, and make an effort to characterize every known disease mutation by dissecting the effect of mutations on intracellular stability, maturation, transport and the activity of AGA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_assertion evidence source_evidence_curated NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_assertion SIO_000772 11309371 NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_assertion wasDerivedFrom uniprot-2016 NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_assertion wasGeneratedBy ECO_0000218 NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1370.RAW4cTVFXVDI-1xL1qh5Yy0Q_OmAOypEXsuqjnFGH4PKA130_provenance.