Varaico: Literature-Extracted Genetic Variants

Gene:POLG2
Variant:p.R225*
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POLG2

NM_007215.4:p.R225*

Associated Papers

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_S2

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.

Kim M et al.

Parkinsonism & Related Disorders, 2020

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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."