Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L146P
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MFN2

NM_014874.4:p.L146P

Associated Papers

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.

Lei L et al.

European Journal of Neurology, 2023

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Lerat J et al.

Molecular Genetics & Genomic Medicine, 2019

Mitochondria and peripheral neuropathies.

Vital A et al.

Journal of Neuropathology and Experimental 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."