Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.E44K
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MFN2

NM_014874.4:p.E44K

Associated Papers

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.

Tsuboi M et al.

Plos One, 2017

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

Ronchi D et al.

Brain : a Journal of Neurology, 2012

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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."