Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.M1T
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MFN2

NM_014874.4:p.M1T

Associated Papers

Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.

Bogdanova-Mihaylova P et al.

Journal of the Peripheral Nervous System : Jpns, 2019

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

Bergamin G et al.

Neuromolecular Medicine, 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."