Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.H277Y
Back to variants list

MFN2

NM_014874.4:p.H277Y

Associated Papers

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.

Beręsewicz M et al.

Scientific Reports, 2018

30442897 (PubMed )
Supplement: 41598_2018_35133_MOESM1_ESM.docx

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."