Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3C
Variant:p.N249S
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PPP1R3C

NM_005398.7:p.N249S

Associated Papers

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.

Ferlazzo E et al.

Epilepsia, 2014

A PTG variant contributes to a milder phenotype in Lafora disease.

Guerrero R et al.

Plos One, 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."