Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.E288D
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MFN2

NM_014874.4:p.E288D

Associated Papers

Neuropathic pain in Charcot-Marie-Tooth disease: A clinical and laser-evoked potential study.

Peretti A et al.

European Journal of Pain (london, England), 2022

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

Bergamin G et al.

Neuromolecular Medicine, 2014

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

Schröder NW et al.

Muscle & Nerve, 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."