Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R443C
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POLG

NM_002693.3:p.R443C

Associated Papers

Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.

Si L et al.

Neurogenetics, 2023

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A et al.

Biochimica Et Biophysica Acta, 2016

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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."