Article

Comprehensive Analysis of <i>HEXB</i> Protein Reveal Forty Two Novel nsSNPs That May Lead to Sandhoff disease (SD) Using Bioinformatics

2019-11-25

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Single Nucleotide Polymorphisms (SNPs) in the HEXB gene are associated with a neurodegenerative disorder called Sandhoff disease (SD) (GM2 gangliosidosis-O variant). 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...

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Literature Corpus work: 7fbd71a9-d065-5d2b-88d7-ea5c9c1fad6c
DOI: 10.1101/853077

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