Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.W329Splc
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HEXA

NM_000520.6:p.W329Splc

Associated Papers

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.

Barker EN et al.

Biology Open, 2025

Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.

Tropak MB et al.

The Febs Journal, 2007

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

Maegawa GH et al.

The Journal of Biological Chemistry, 2007

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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."