Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_assertion description "[Two 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." NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_assertion evidence source_evidence_literature NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_assertion SIO_000772 17923349 NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_assertion wasDerivedFrom befree-20140225 NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_assertion wasGeneratedBy ECO_0000203 NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP885172.RAF2D7pNur0v2enZUs1s4C7LwFgAYLt64_pcoqZZ6AnPk130_provenance.