Additional file 2: of Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
- Jayesh Sheth (318977)
- Mehul Mistri (318964)
- Riddhi Bhavsar (5211767)
- Dhairya Pancholi (5211761)
- Mahesh Kamate (6080429)
- Neerja Gupta (53651)
- Madhulika Kabra (53650)
- Sanjiv Mehta (6080432)
- Sheela Nampoothiri (5229311)
- Arpita Thakker (6080435)
- Vivek Jain (310927)
- Raju Shah (4535845)
- Frenny Sheth (318968)
Publication date
December 2018
DOIAbstract
In silico analysis of the functional effect of the variants identified in the patients with NCL1 and NCL2. The in silico tools predicting the effect of DNA variants, coding non-synonymous variants, amino acid substitution, and non-coding variants were employed to predict the functional effect of the variants identified in the given study. (DOCX 17 kb
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