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- source_evidence_literature type ECO_0000212 NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_assertion description "[Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_assertion evidence source_evidence_literature NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_assertion SIO_000772 10679936 NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_assertion wasDerivedFrom befree-2016 NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_assertion wasGeneratedBy ECO_0000203 NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.
- befree-2016 importedOn "2016-02-19" NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_provenance.