Varaico: Literature-Extracted Genetic Variants

Gene:AFG3L2
Variant:p.E428D
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AFG3L2

NM_006796.3:p.E428D

Associated Papers

Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5.

Oeztuerk M et al.

Frontiers in Molecular Neuroscience, 2025

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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."