Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.L692R
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MFN2

NM_014874.4:p.L692R

Associated Papers

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

Taghizadeh S et al.

Archives of Iranian Medicine, 2020

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M et al.

Journal of the Peripheral Nervous System : Jpns, 2017

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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."