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- source_evidence_literature type ECO_0000212 NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_assertion wasGeneratedBy ECO_0000203 NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_assertion wasDerivedFrom befree-2016 NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_assertion SIO_000772 8037208 NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_assertion evidence source_evidence_literature NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.
- NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_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." NP1330486.RAuA5z18mEQLMw99EthYujysNeg-Imp2qBzj78SV6ZP1Y130_provenance.