Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.K109T
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MFN2

NM_014874.4:p.K109T

Associated Papers

Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage.

Zhang Y et al.

International Journal of Biological Macromolecules, 2024

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.

Chevrollier A et al.

The International Journal of Biochemistry & Cell Biology, 2012

Control of mitochondrial morphology by a human mitofusin.

Santel A et al.

Journal of Cell Science, 2001

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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."