Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R275Q
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MFN2

NM_014874.4:p.R275Q

Associated Papers

Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.

Bustillos BA et al.

Cells, 2024

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.

Franco A et al.

Elife, 2023

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

Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Broadway BJ et al.

Cells, 2022

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