Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.C505Y
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HEXA

NM_000520.6:p.C505Y

Associated Papers

Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.

Mansouri V et al.

European Journal of Neurology, 2023

Natural History of Adult Patients with GM2 Gangliosidosis.

Masingue M et al.

Annals of Neurology, 2020

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

Delnooz CC et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

Substrate reduction therapy in juvenile GM2 gangliosidosis.

Maegawa GH et al.

Molecular Genetics and Metabolism, 0

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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."