Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_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." NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_assertion evidence source_evidence_literature NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_assertion SIO_000772 17923349 NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_assertion wasDerivedFrom befree-20150227 NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_assertion wasGeneratedBy ECO_0000203 NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP633495.RA_4_3xKA8xLD5R5JkqnImcicssx3LP8hOqJ1kB3nAORk130_provenance.