Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.A847T
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POLG

NM_002693.3:p.A847T

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Da Pozzo P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017

Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders.

Formichi P et al.

Journal of the Neurological Sciences, 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."