Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.R166G
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HEXA

NM_000520.6:p.R166G

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

Structural consequences of amino acid substitutions causing Tay-Sachs disease.

Ohno K et al.

Molecular Genetics and Metabolism, 2008

Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.

Martin DC et al.

Clinical Chemistry, 2007

Biochemical characterization of the GM2 gangliosidosis B1 variant.

Tutor JC

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004

Tay-Sachs disease carrier screening: a model for prevention of genetic disease.

Kaplan F

Genetic Testing, 1998

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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."