Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP836830.RAXq3CTpLZwTh4DjeO2LIQJ2CNcpR_JOrkeE5FT71jmiU#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- LHGDN importedOn "2009-03-31" provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion SIO_000772 17923349 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.