Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.Q386P
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MFN2

NM_014874.4:p.Q386P

Associated Papers

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

Zaman M et al.

Frontiers in Cell and Developmental Biology, 2022

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

Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax.

Samanas NB et al.

Life Science Alliance, 2020

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

A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.

Park SY et al.

Neurogenetics, 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."