Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.Q751*
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MFN2

NM_014874.4:p.Q751*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.

Figueiredo FB et al.

Journal of the Peripheral Nervous System : Jpns, 2024

The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.

Zaman M et al.

Frontiers in Cell and Developmental Biology, 2022

MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.

Kawarai T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

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

Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.

Piscosquito G et al.

Journal of the Peripheral Nervous System : Jpns, 2015

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

Stuppia G et al.

Journal of the Neurological Sciences, 2015

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G et al.

Neuromolecular Medicine, 2014

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

Sitarz KS et al.

Brain : a Journal of Neurology, 2012

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K et al.

Brain : a Journal of Neurology, 2006

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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."