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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLG

Variant:p.*1240Y

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POLG

NM_002693.3:p.*1240Y

hg38:chr15:89316751 C>G

Associated Papers

POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy.

Levee V et al.

Practical Neurology, 2025

39209381 (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."