Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- befree-2016 importedOn "2016-02-19" NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_assertion wasGeneratedBy ECO_0000203 NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_assertion wasDerivedFrom befree-2016 NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_assertion SIO_000772 20490928 NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_assertion evidence source_evidence_literature NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.
- NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_assertion description "[Misfolding and aggregation of mutant enzymes have been proposed to play role in the pathogenesis of homocystinuria due to cystathionine β-synthase (CBS) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP813743.RABCdeGUuABuL02MxJjTpZvD_nafFFOZDiski76M2MNqs130_provenance.