Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.E346_E347Splc
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MFN2

NM_014874.4:p.E346_E347Splc

Associated Papers

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

Brožková DŠ et al.

Molecular Medicine Reports, 2013

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Casasnovas C et al.

Journal of Medical Genetics, 2010

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Kijima K et al.

Human Genetics, 2005

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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."