Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_assertion> ?p ?o ?g. }
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- NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_assertion type Assertion NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_head.
- NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_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." NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_provenance.
- NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_assertion evidence source_evidence_literature NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_provenance.
- NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_assertion SIO_000772 24236044 NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_provenance.
- NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_assertion wasDerivedFrom befree-20150227 NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_provenance.
- NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_assertion wasGeneratedBy ECO_0000203 NP719339.RAQLCLkEu2N2WdUd6WGM35SgKyRJSp5rPdaIqoMmd36xk130_provenance.