Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.G478R
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HEXA

NM_000520.6:p.G478R

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

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Ou L et al.

Molecular Genetics and Metabolism Reports, 2019

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

Sheth J et al.

Jimd Reports, 2014

Molecular study of lysosomal storage disorders in India.

Sheth J

Molecular Cytogenetics, 2014

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Mistri M et al.

Plos One, 2012

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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."