Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.D452N
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HEXB

NM_000521.4:p.D452N

Associated Papers

Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.

Kitakaze K et al.

The Journal of Clinical Investigation, 2016

Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis.

Matsuoka K et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2011

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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."