Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.T40insFs
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SOD1

NM_000454.5:p.T40insFs

Associated Papers

Amyotrophic lateral sclerosis mutations have the greatest destabilizing effect on the apo- and reduced form of SOD1, leading to unfolding and oxidative aggregation.

Furukawa Y et al.

The Journal of Biological Chemistry, 2005

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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."