Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.A100G
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MFN2

NM_014874.4:p.A100G

Associated Papers

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

Chrysostomaki M et al.

Genes, 2026

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G et al.

Neuromolecular Medicine, 2014

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Sitarz KS et al.

Brain : a Journal of Neurology, 2012

Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.

Eschenbacher WH et al.

Plos One, 2012

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K et al.

Brain : a Journal of Neurology, 2006

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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."