Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.K307E
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MFN2

NM_014874.4:p.K307E

Associated Papers

Genotype-phenotype characteristics of Chinese Charcot-Marie-Tooth disease type 2A and related MRI features.

Xie Y et al.

Chinese Medical Journal, 2025

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort.

Ma Y et al.

Frontiers in Neurology, 2021

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Pipis M et al.

Brain : a Journal of Neurology, 2020

33415332 (PubMed )
Supplement: awaa323_supplementary_data.zip › awaa323-suppl_data › brain-2020-01188-File006.pdf

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

28660751 (PubMed )
Supplement: JNS-22-191-s002.pdf

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

Xie Y et al.

Journal of the Peripheral Nervous System : Jpns, 2016

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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."