Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development

Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functiona...

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Auteur principal: De Vita, Dalila (auth)
Format: Électronique Chapitre de livre
Langue:anglais
Publié: Florence Firenze University Press 2021
Collection:Premio Tesi di Dottorato 88
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