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Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy

2023-06-12

Abstract excerpt

<h4>Background: </h4> Developmental and Epileptic Encephalopathies stand for a heterogenous group of epileptic syndromes, where the epileptic activity itself and/or the etiology contribute to cognitive and behavioral impairment. In recent decades, genetic etiology has increasingly been recognized as the cause of Developmental and Epileptic Encephalopathies and numerous genes have been identified, thanks to advance...

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Literature Corpus work
f75b069f-5d99-54e5-91f6-4542402903bd
DOI
10.21203/rs.3.rs-3033989/v1
Open publication

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Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic EncephalopathyDOI 10.21203/rs.3.rs-3033989/v1
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