Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_assertion> ?p ?o ?g. }
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- NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_assertion type Assertion NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_head.
- NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_assertion description "[This is the first reported case of Ohtahara syndrome with abnormal genital and psychomotor development in the setting of this novel ARX mutation in exon 5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_provenance.
- NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_assertion evidence source_evidence_literature NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_provenance.
- NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_assertion SIO_000772 21426321 NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_provenance.
- NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_assertion wasDerivedFrom befree-20140225 NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_provenance.
- NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_assertion wasGeneratedBy ECO_0000203 NP447486.RAlQgzEWKp7Pk-HfDzb-o_Fx5WerIh0HZEgqUJRGvuqGw130_provenance.