Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.E575Q
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SPG7

NM_003119.4:p.E575Q

Associated Papers

Functional evaluation of paraplegin mutations by a yeast complementation assay.

Bonn F et al.

Human Mutation, 2010

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

Atorino L et al.

The Journal of Cell Biology, 2003

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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."