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- source_evidence_literature type ECO_0000212 NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_assertion description "[This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_assertion evidence source_evidence_literature NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_assertion SIO_000772 21108397 NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_assertion wasDerivedFrom befree-2016 NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_assertion wasGeneratedBy ECO_0000203 NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.
- befree-2016 importedOn "2016-02-19" NP854829.RA4lHae7ulUAJtpi0ZPZlxdQwAj_gMN9WPqmWUf19XKbU130_provenance.