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- source_evidence_literature type ECO_0000212 NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- befree-20150227 importedOn "2015-02-27" NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_assertion wasGeneratedBy ECO_0000203 NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_assertion wasDerivedFrom befree-20150227 NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_assertion SIO_000772 8037208 NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_assertion evidence source_evidence_literature NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.
- NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_assertion description "[Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587725.RAEc0OuFMudJaxej976PNt0nWWC-J95PAKkTARS5QUm3o130_provenance.