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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPM2A

Variant:p.Y208_P209insFs

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EPM2A

NM_005670.4:p.Y208_P209insFs

hg38:chr6:145635335 C>CTGGG

Associated Papers

A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.

Nordli DR et al.

Child Neurology Open, 0

36211619 (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."