Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.T142A
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EPM2A

NM_005670.4:p.T142A

Associated Papers

Assessing the Biological Activity of the Glucan Phosphatase Laforin.

Romá-Mateo C et al.

Methods in Molecular Biology (clifton, N.j.), 2016

Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

Raththagala M et al.

Molecular Cell, 2015

Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase.

Romá-Mateo C et al.

The Biochemical Journal, 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."