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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OGA

Variant:p.T426_T427insFs

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OGA

NM_012215.5:p.T426_T427insFs

hg38:chr10:101799373 T>TAGTA

Associated Papers

Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.

Chiricozzi E et al.

Molecular Neurobiology, 2014

24356898 (PubMed )

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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."