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- source_evidence_literature type ECO_0000212 NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_assertion description "[Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_assertion evidence source_evidence_literature NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_assertion SIO_000772 22956686 NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_assertion wasDerivedFrom befree-20140225 NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_assertion wasGeneratedBy ECO_0000203 NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP235081.RAbCQbP-KbAGnReknLrhi-d5KVi7VOlx1iB77YF3nR6oY130_provenance.