Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.L484P
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HEXA

NM_000520.6:p.L484P

Associated Papers

Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis.

Ranjani S et al.

Journal of Biomolecular Structure & Dynamics, 2026

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.

Castejón-Vega B et al.

Cells, 2021

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

Ou L et al.

Molecular Genetics and Metabolism Reports, 2019

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gort L et al.

Gene, 2012

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

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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."