Decoding of novel missense TSC2 gene variants using in-silico methods

• Main Authors: Shruthi Sudarshan (Author), Manoj Kumar (Author), Punit Kaur (Author), Atin Kumar (Author), Sethuraman G. (Author), Savita Sapra (Author), Sheffali Gulati (Author), Neerja Gupta (Author), Madhulika Kabra (Author), Madhumita Roy Chowdhury (Author)
• Format: Book
• Published: BMC, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC heterodimer that senses specific cell growth conditions...