Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.S3insFs
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POLG2

NM_007215.4:p.S3insFs

Associated Papers

Does POLG2 Play a Role in Cerebellar Ataxia and Hypogonadotropic Hypogonadism?

Koch CA et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2026

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

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."