Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP990564.RABWMEXTiYyWGtElZwT33J40hp4RZ9u1X_nXFf2RPYNvc#assertion> ?p ?o ?g. }
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- assertion description "[Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 24236044 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.