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Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Author(s) -
Shruthi Sudarshan,
Atin Kumar,
Arun Kumar Gupta,
Neetu Bhari,
Gomathy Sethuraman,
Tanuja Kaushal,
Ankita Pradhan,
Savita Sapra,
Neerja Gupta,
Punit Kaur,
Sheffali Gulati,
Biswaroop Chakrawarty,
Sumita Danda,
Meenakshi Bhatt,
Seema Kapoor,
Katta M. Girisha,
Naveen Sankhyan,
Madhulika Kabra,
Madhumita Roy Chowdhury
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1716495
Subject(s) - tsc1 , tuberous sclerosis , multiplex ligation dependent probe amplification , tsc2 , population , genetic testing , genetics , sanger sequencing , medicine , mutation , biology , pathology , gene , apoptosis , environmental health , pi3k/akt/mtor pathway , exon

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