Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.L1083L
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POLG

NM_002693.3:p.L1083L

Associated Papers

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.

Ratnaike T et al.

American Journal of Human Genetics, 2025

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Smet J et al.

Electrophoresis, 2009

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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."