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- source_evidence_literature type ECO_0000212 NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_assertion description "[Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_assertion evidence source_evidence_literature NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_assertion SIO_000772 19734009 NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_assertion wasDerivedFrom befree-20150227 NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_assertion wasGeneratedBy ECO_0000203 NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978118.RAbCC9ZFEVmYO1PAsyJsuB4PNANiRrsWPbSaoXqSGsdII130_provenance.