Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development
نویسندگان
چکیده
Malformations of cortical development (MCDs) result from a disruption in the process human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated identification MCDs causing genes: some cases, functional studies needed to clarify role genetic variants. The aim this PhD project been apply multidisciplinary approach identify causative mutations patients with MCDs, validate pathogenic identified mutations, and assess effectiveness novel vitro treatment mTOR pathway related
منابع مشابه
Genome editing as a tool toward better functional understanding of variants identified by next-generation sequencing.
Author Contributions: All authors confirmed they have contributed to the intellectual content of this paper and have met the following 3 requirements: (a) significant contributions to the conception and design, acquisition of data, or analysis and interpretation of data; (b) drafting or revising the article for intellectual content; and (c) final approval of the published article. Authors’ Disc...
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ژورنال
عنوان ژورنال: Premio Tesi di dottorato
سال: 2021
ISSN: ['2612-8020', '2612-8039']
DOI: https://doi.org/10.36253/978-88-5518-344-4