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...
Format: | eBook |
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Language: | English |
Published: |
Florence
Firenze University Press
2021
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Series: | Premio Tesi di Dottorato
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Subjects: | |
Online Access: | Open Access: DOAB: description of the publication Open Access: DOAB, download the publication |