Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_assertion> ?p ?o ?g. }
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- NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_assertion type Assertion NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_head.
- NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_assertion description "[Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_provenance.
- NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_assertion evidence source_evidence_literature NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_provenance.
- NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_assertion SIO_000772 20384723 NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_provenance.
- NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_assertion wasDerivedFrom befree-20140225 NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_provenance.
- NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_assertion wasGeneratedBy ECO_0000203 NP446459.RAAeJx68I2RjrfyDKoAx1-On3vDOPj56OKRCT1hiuJrec130_provenance.