Varaico: Literature-Extracted Genetic Variants

Gene:MFF
Variant:p.L62fs
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MFF

NM_020194.5:p.L62fs

Associated Papers

Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene.

Kılıçarslan O et al.

Ophthalmic Genetics, 2023

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.

Panda I et al.

Clinical Genetics, 2020

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.

Nasca A et al.

Frontiers in Genetics, 2018

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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."