Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_assertion> ?p ?o ?g. }
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- NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_assertion type Assertion NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_head.
- NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_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." NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_provenance.
- NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_assertion evidence source_evidence_literature NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_provenance.
- NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_assertion SIO_000772 21108397 NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_provenance.
- NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_assertion wasDerivedFrom befree-20140225 NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_provenance.
- NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_assertion wasGeneratedBy ECO_0000203 NP768400.RA6kk1P_3AINTCvYhycXLttVCEZkXCkdVvDsTLET6QDzA130_provenance.