Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.E114K
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OGA

NM_012215.5:p.E114K

Associated Papers

In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.

Almanasra A et al.

Proteins, 2021

In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay-Sachs disease.

Ihsan Fazal M et al.

Journal of Genetics, 2020

Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

Sheth J et al.

Jimd Reports, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."