Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.F403ins8
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POLG2

NM_007215.4:p.F403ins8

Associated Papers

Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.

Somai S et al.

International Journal of Molecular Sciences, 2025

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

Borsche M et al.

Cerebellum (london, England), 2024

37085601 (PubMed )
Supplement: 12311_2023_1557_MOESM1_ESM.xlsx › Table_S1

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.

Hou Y et al.

Molecular Genetics & Genomic Medicine, 2022

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.

Ahmed N et al.

International Journal of Molecular Sciences, 2015

Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.

Zhang L et al.

Archives of Pathology & Laboratory Medicine, 2011

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Walter MC et al.

Journal of Neurology, 2010

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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."