Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.A572T
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SPG7

NM_003119.4:p.A572T

Associated Papers

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Charif M et al.

Neurology. Genetics, 2020

Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.

Puchades C et al.

Molecular Cell, 2019

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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."