Varaico: Literature-Extracted Genetic Variants

Gene:FDX2
Variant:p.M1I
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FDX2

NM_001397406.1:p.M1I

Associated Papers

Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.

Wongkittichote P et al.

Jimd Reports, 2024

Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.

Gkiourtzis N et al.

American Journal of Medical Genetics. Part A, 2023

Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.

Aggarwal A et al.

American Journal of Medical Genetics. Part A, 2022

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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."