Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.T326insFs
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POLG

NM_002693.3:p.T326insFs

Associated Papers

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Steffann J et al.

Journal of Medical Genetics, 2017

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Chan SS et al.

Mitochondrion, 2009

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."