Article
Thirty two novel nsSNPs May effect on <i>HEXA</i> protein Leading to Tay-Sachs disease (TSD) Using a Computational Approach
2019-09-09
Abstract excerpt
<h4>ABSTRACT</h4> <h4>Background</h4> Genetic polymorphisms in the HEXA gene are associated with a neurodegenerative disorder called Tay-Sachs disease (TSD) (GM2 gangliosidosis type 1). This study aimed to predict the possible pathogenic SNPs of this gene and their impact on the protein using different bioinformatics tools. <h4>Methods</h4> SNPs retrieved from the NCBI database were analyzed using several bio...
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Identifiers and source
- Literature Corpus work
- 23a622da-a5b4-508e-9854-16a932d9cb98
- DOI
- 10.1101/762518
