Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.Q975_Q976insC
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POLG

NM_002693.3:p.Q975_Q976insC

Associated Papers

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Sarzi E et al.

The Journal of Pediatrics, 2007

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

Naïmi M et al.

European Journal of Human Genetics : Ejhg, 2006

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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."