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- NP978130.RAfYqASlj4WQ90xAWFUWJJwHezkA9lE7WCCk4vfl0AmJ4130_assertion type Assertion NP978130.RAfYqASlj4WQ90xAWFUWJJwHezkA9lE7WCCk4vfl0AmJ4130_head.
- NP978130.RAfYqASlj4WQ90xAWFUWJJwHezkA9lE7WCCk4vfl0AmJ4130_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." NP978130.RAfYqASlj4WQ90xAWFUWJJwHezkA9lE7WCCk4vfl0AmJ4130_provenance.
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- NP978130.RAfYqASlj4WQ90xAWFUWJJwHezkA9lE7WCCk4vfl0AmJ4130_assertion wasGeneratedBy ECO_0000203 NP978130.RAfYqASlj4WQ90xAWFUWJJwHezkA9lE7WCCk4vfl0AmJ4130_provenance.