Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.E347V
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MFN2

NM_014874.4:p.E347V

Associated Papers

E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.

Anton V et al.

Molecular Cell, 2023

37595558 (PubMed )
Supplement: mmc1.pdf

Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.

Comella M et al.

Case Reports in Pediatrics, 2022

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

Stuppia G et al.

Journal of the Neurological Sciences, 2015

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Engelfried K et al.

Bmc Medical Genetics, 2006

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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."