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- source_evidence_literature type ECO_0000212 NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_assertion description "[Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_assertion evidence source_evidence_literature NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_assertion SIO_000772 16326141 NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_assertion wasDerivedFrom befree-2016 NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_assertion wasGeneratedBy ECO_0000203 NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.
- befree-2016 importedOn "2016-02-19" NP525286.RAH1SldIEy7F--MjCF3M17UCsu5ur5kWaJC5izjkCQj08130_provenance.