Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines

2020 ◽  
Vol 36 (9) ◽  
pp. 1827-1830
Author(s):  
Lang He ◽  
Wei Ye ◽  
Zhao Chen ◽  
Xinling Meng ◽  
Hong Jiang
Keyword(s):  
Next Generation Sequencing ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Next Generation ◽  
Novel Mutations ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Targeted next generation sequencing identifies novel mutations in Indian patients with retinal dystrophies

2017 ◽  
Vol 1 (Special Issue) ◽  
pp. 91-91
Author(s):  
Rajeshwari Patil ◽  
Poornachandra Poornachandra ◽  
Nallathambi Jeyabalan ◽  
Arkasubhra Ghosh ◽  
Anuprita Ghosh
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Novel Mutations ◽  
Targeted Next Generation Sequencing ◽  
Retinal Dystrophies ◽  
Indian Patients ◽  
Generation Sequencing
Sign in / Sign up

Export Citation Format

Share Document