Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.I88F
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MFN2

NM_014874.4:p.I88F

Associated Papers

Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

Ando M et al.

Annals of Clinical and Translational Neurology, 2026

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T et al.

Bmc Medical Genetics, 2015

26392352 (PubMed )
Supplement: 12881_2015_224_MOESM2_ESM.xlsx › ST2
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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."