Varaico: Literature-Extracted Genetic Variants

Gene:DNA2
Variant:p.I519V
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DNA2

NM_001080449.3:p.I519V

Associated Papers

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

Mavraki E et al.

European Journal of Human Genetics : Ejhg, 2023

Genetic basis of mitochondrial diseases.

Gusic M et al.

Febs Letters, 2021

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

Plutino M et al.

Bmc Medical Genetics, 2018

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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."