Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L92R
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MFN2

NM_014874.4:p.L92R

Associated Papers

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

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

McCorquodale DS et al.

Journal of Neurology, 2011

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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."