Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R628W
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POLG

NM_002693.3:p.R628W

Associated Papers

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable4

Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

Kasahara T et al.

Psychiatry and Clinical Neurosciences, 2017

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."