Varaico: Literature-Extracted Genetic Variants

Gene:TOP3A
Variant:p.T519A
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TOP3A

NM_004618.5:p.T519A

Associated Papers

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E et al.

European Journal of Human Genetics : Ejhg, 2023

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

Advances Towards Therapeutic Approaches for mtDNA Disease.

Al Khatib I et al.

Advances in Experimental Medicine and Biology, 2019

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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."