Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L734V
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MFN2

NM_014874.4:p.L734V

Associated Papers

Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.

Joaquim M et al.

Journal of Cell Science, 2025

A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.

Amiott EA et al.

Molecular Biology of the Cell, 2009

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.

Amiott EA et al.

Experimental Neurology, 2008

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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."