Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R384W
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MFN2

NM_014874.4:p.R384W

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

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Auranen M et al.

Neurogenetics, 2013

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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."