Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.W60*
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EPM2A

NM_005670.4:p.W60*

Associated Papers

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Srivastava P et al.

Frontiers in Genetics, 2023

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

Ganesh S et al.

Journal of Human Genetics, 2006

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

Ianzano L et al.

Human Mutation, 2004

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

Minassian BA et al.

Neurology, 2000

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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."