Varaico: Literature-Extracted Genetic Variants

Gene:AFG3L2
Variant:p.R465K
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AFG3L2

NM_006796.3:p.R465K

Associated Papers

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.

Ghosh Dastidar R et al.

Molecular Neurobiology, 2024

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Caporali L et al.

Annals of Neurology, 2020

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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."