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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPM2A

Variant:p.T233T

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EPM2A

NM_005670.4:p.T233T

hg38:chr6:145635264 T>G

Associated Papers

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

Lohi H et al.

Neurology, 2007

17389303 (PubMed )

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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."