Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_assertion> ?p ?o ?g. }
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- NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_assertion type Assertion NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_head.
- NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_assertion description "[A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_provenance.
- NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_assertion evidence source_evidence_literature NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_provenance.
- NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_assertion SIO_000772 17668384 NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_provenance.
- NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_assertion wasDerivedFrom befree-2016 NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_provenance.
- NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_assertion wasGeneratedBy ECO_0000203 NP622861.RAXAV_gtOH4n3GjIA0y8182in2xvH-MZJP5pM3qUbZNck130_provenance.