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...

Full description

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