Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.H750P
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MFN2

NM_014874.4:p.H750P

Associated Papers

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L et al.

Journal of the Peripheral Nervous System : Jpns, 2018

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

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Sitarz KS et al.

Brain : a Journal of Neurology, 2012

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

Feely SM et al.

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."