Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.T706P
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MFN2

NM_014874.4:p.T706P

Associated Papers

E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.

Anton V et al.

Molecular Cell, 2023

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M et al.

Journal of the Peripheral Nervous System : Jpns, 2017

28660751 (PubMed )
Supplement: JNS-22-191-s002.pdf

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

Bergamin G et al.

Neuromolecular Medicine, 2014

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

Mathis S et al.

Journal of Neuropathology and Experimental Neurology, 2014

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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."