Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.H44_G45insFs
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SOD1

NM_000454.5:p.H44_G45insFs

Associated Papers

U7 snRNA: A tool for gene therapy.

Gadgil A et al.

The Journal of Gene Medicine, 2021

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Gamez J et al.

Journal of the Neurological Sciences, 2006

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

Clinical characteristics of SOD1 gene mutations in UK families with ALS.

Orrell RW et al.

Journal of the Neurological Sciences, 1999

Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

Orrell RW et al.

Neurology, 1997

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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."