Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.A169T
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POLG2

NM_007215.4:p.A169T

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

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

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC et al.

Brain : a Journal of Neurology, 2012

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W et al.

Nucleic Acids Research, 2011

20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppTable-6.xls › gene_snp_analysis4

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."