Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.D235A
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EPM2A

NM_005670.4:p.D235A

Associated Papers

Dimeric quaternary structure of human laforin.

Sankhala RS et al.

The Journal of Biological Chemistry, 2015

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

Fernández-Sánchez ME et al.

Human Molecular Genetics, 2003

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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."