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Black horizontal bars represent nondeleted regions; gradient bars identify either uninformative or inconclusive areas.Although we did not observe any correlation between deletion size and the severity of patients phenotypes, correlations between specific phenotypic features and gene content of a patient copy number variation were apparent (Table 1). Subjects with deletions of STXBP1 coding sequence were more likely to have epilepsy. Moreover, one patient with disruption of SPTAN1 displayed defects in myelination.
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