Varaico: Literature-Extracted Genetic Variants

Gene:OGA
Variant:p.S505N
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OGA

NM_012215.5:p.S505N

Associated Papers

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

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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."