Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_assertion description "[We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_assertion evidence source_evidence_literature NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_assertion SIO_000772 22956686 NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_assertion wasDerivedFrom befree-20140225 NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_assertion wasGeneratedBy ECO_0000203 NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.
- befree-20140225 importedOn "2014-02-25" NP596513.RAfLEgwCPW6b-Z0TgbQtc-4WMAyovzmwspAG5H_pPd94E130_provenance.