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- source_evidence_literature type ECO_0000212 NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_assertion wasGeneratedBy ECO_0000203 NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_assertion wasDerivedFrom lhgdn-20090331 NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_assertion SIO_000772 17923349 NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_assertion evidence source_evidence_literature NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.
- NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_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." NP191995.RAU8gl1hLvJkPbakkq-Tx75y3yEuj2dX3pQ67QENXTsys130_provenance.