Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_assertion> ?p ?o ?g. }
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- NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_assertion type Assertion NP275482.RAEX1lvtMXL6ZfoYaAMhE6vzlIVsa8YxZFW5M-INXQshY130_head.
- 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.