Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.K357E
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MFN2

NM_014874.4:p.K357E

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

Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives.

Alberti C et al.

Neurobiology of Disease, 2024

E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.

Anton V et al.

Molecular Cell, 2023

37595558 (PubMed )
Supplement: mmc1.pdf

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.

Abati E et al.

Scientific Reports, 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."