Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.H253fs
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EPM2A

NM_005670.4:p.H253fs

Associated Papers

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

Ganesh S et al.

Journal of Human Genetics, 2006

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Gentry MS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

Gómez-Garre P et al.

European Journal of Human Genetics : Ejhg, 2000

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