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

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

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...

Full description

Bibliographic Details
Main Authors: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Medical Genetics
Subjects:
Tuberous sclerosis complex (TSC)
Multiplex ligation dependent probe amplification (MLPA)
Central nervous system (CNS)
GAP (GTPase-activating protein)
HGMD (human gene mutation database)
Online Access:http://link.springer.com/article/10.1186/s12881-019-0891-y

Internet

http://link.springer.com/article/10.1186/s12881-019-0891-y

Similar Items