Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.T105R
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MFN2

NM_014874.4:p.T105R

Associated Papers

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Schon K et al.

Neurogenetics, 2017

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

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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."