Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.P256insFs
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POLG

NM_002693.3:p.P256insFs

Associated Papers

Mitochondrial depletion syndromes in children and adults.

Finsterer J et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.

Pronicka E et al.

Journal of Applied Genetics, 2011

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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."