Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.C8R
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MFN2

NM_014874.4:p.C8R

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

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Casasnovas C et al.

Journal of Medical Genetics, 2010

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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."