Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.V12I
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MFN2

NM_014874.4:p.V12I

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

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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