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Article

Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia.

Journal of cellular biochemistry - 1 Jan 2018

Sinha Siddharth, Verma Sharad, Singh Aditi, Somvanshi Pallavi, Grover Abhinav

Abstract excerpt

Spinocerebellar degeneration, termed as ataxia is a neurological disorder of central nervous system, characterized by limb in-coordination and a progressive gait. The patient also demonstrates specific symptoms of muscle weakness, slurring of speech, and decreased vibration senses. Expansion of polyglutamine trinucleotide (CAG) within ATXN2 gene with 35 or more repeats, results in spinocerebellar ataxia type-2....

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PMID: 28612427
DOI: 10.1002/jcb.26209

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ATXN2

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