Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.S279P
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HEXA

NM_000520.6:p.S279P

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

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

Biochemical consequences of mutations causing the GM2 gangliosidoses.

Mahuran DJ

Biochimica Et Biophysica Acta, 1999

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

Drucker L et al.

Human Mutation, 1997

Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.

Tews I et al.

Nature Structural Biology, 1996

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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."