Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.A54T
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MFN2

NM_014874.4:p.A54T

Associated Papers

A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.

Barsa C et al.

Scientific Reports, 2025

40121276 (PubMed )
Supplement: 41598_2025_93702_MOESM1_ESM.pdf

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.

Franco A et al.

Elife, 2023

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