Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_assertion> ?p ?o ?g. }
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- NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_assertion type Assertion NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_head.
- NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_assertion description "[We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_provenance.
- NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_assertion evidence source_evidence_literature NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_provenance.
- NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_assertion SIO_000772 19747203 NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_provenance.
- NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_assertion wasDerivedFrom befree-20140225 NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_provenance.
- NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_assertion wasGeneratedBy ECO_0000203 NP747251.RAwX170dR0ZLL4ZNtsT2kzCzO66a-jTwWQGobzmcrUIZQ130_provenance.