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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLG

Variant:p.D1145insFs

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POLG

NM_002693.3:p.D1145insFs

hg38:chr15:89318589 T>TCCTC

Associated Papers

Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.

Koessler M et al.

Jimd Reports, 2021

33473333 (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."