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- source_evidence_literature type ECO_0000212 NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_assertion wasGeneratedBy ECO_0000203 NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_assertion wasDerivedFrom befree-20150227 NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_assertion SIO_000772 21890410 NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_assertion evidence source_evidence_literature NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.
- NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_assertion description "[Aberrant hyperactivation of mTOR as a consequence of loss-of-function gene mutations encoding mTOR inhibitor proteins such as TSC1, TSC2, PTEN and STRADα has been recently linked to developmental cortical malformations associated with epilepsy and neurobehavioral disabilities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP961809.RAyENJdiO0pC52nNn91oPADv2O1EiE8SWQ_0ElmeE8ChI130_provenance.