Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.Q55K
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EPM2A

NM_005670.4:p.Q55K

Associated Papers

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

Jara-Prado A et al.

Epilepsy Research, 2014

Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Lohi H et al.

Neurology, 2007

Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.

Girard JM et al.

Biochimie, 2006

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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."