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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Format: | Électronique Chapitre de livre |
Langue: | anglais |
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Florence
Firenze University Press
2021
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Collection: | Premio Tesi di Dottorato
88 |
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Accès en ligne: | OAPEN Library: download the publication OAPEN Library: description of the publication |
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A1234.567 |
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