Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_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." NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_assertion evidence source_evidence_literature NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_assertion SIO_000772 17923349 NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_assertion wasDerivedFrom befree-2016 NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_assertion wasGeneratedBy ECO_0000203 NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.
- befree-2016 importedOn "2016-02-19" NP634338.RAElvJfU6gp_pnXt3ZtGoikpVRdtvEogYVqxPxHn-P7jc130_provenance.