Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.F43L
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MFN2

NM_014874.4:p.F43L

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

Genotype-phenotype characteristics of Chinese Charcot-Marie-Tooth disease type 2A and related MRI features.

Xie Y et al.

Chinese Medical Journal, 2025

E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.

Anton V et al.

Molecular Cell, 2023

37595558 (PubMed )
Supplement: mmc1.pdf

Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.

Li YJ et al.

Nature Communications, 2019

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

Xie Y et al.

Journal of the Peripheral Nervous System : Jpns, 2016

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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."