Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.T356A
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MFN2

NM_014874.4:p.T356A

Associated Papers

Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

Ando M et al.

Annals of Clinical and Translational Neurology, 2026

E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.

Anton V et al.

Molecular Cell, 2023

37595558 (PubMed )
Supplement: mmc1.pdf

[Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A].

Zhao D et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

Stuppia G et al.

Journal of the Neurological Sciences, 2015

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

Bergamin G et al.

Neuromolecular Medicine, 2014

A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease.

Wang YW et al.

Genetics and Molecular Research : Gmr, 2012

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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."