Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.I50I
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MFN2

NM_014874.4:p.I50I

Associated Papers

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Zhao J et al.

Scientific Reports, 2022

36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Chung KW et al.

Brain : a Journal of Neurology, 2006

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."