Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_assertion description "[Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4?) or UCP2 (encoding mitochondrial uncoupling protein 2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_assertion evidence source_evidence_literature NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_assertion SIO_000772 21186003 NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_assertion wasDerivedFrom befree-20140225 NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_assertion wasGeneratedBy ECO_0000203 NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP748852.RAFpMGGIWvhHUUa8MMdGFpGqUxkX3QqQdsY2uCIbHVrHQ130_provenance.