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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPM2A

Variant:p.T83M

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EPM2A

NM_005670.4:p.T83M

hg38:chr6:145735251 G>A

Associated Papers

Update on polyglucosan storage diseases.

Cenacchi G et al.

Virchows Archiv : an International Journal of Pathology, 2019

31363843 (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."