Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R280G
Back to variants list

MFN2

NM_014874.4:p.R280G

Associated Papers

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.

Franco A et al.

Elife, 2023

37910431 (PubMed )
Supplement: elife-84235-fig1-data1.xlsx › Sheet1

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
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."