Article

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

2022-02-25

Abstract excerpt

1 <h4>Objective</h4> Microdeletions are associated with different forms of epilepsy but show incomplete penetrance, which is not well understood. We aimed to assess whether unmasked variants or double CNVs could explain incomplete penetrance. <h4>Methods</h4> We analyzed copy number variants (CNVs) in 603 patients with four different subgroups of epilepsy and 945 controls. CNVs were called from genotypes and valid...

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Literature Corpus work: eb27e9e1-c293-592c-81ac-bbc560093362
DOI: 10.1101/2022.02.17.22271082

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