Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.G38*
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SOD1

NM_000454.5:p.G38*

Associated Papers

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

American Journal of Human Genetics, 2025

40957416 (PubMed )
Supplement: mmc2.xlsx › abundance_map_scores_LLRps

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

40060668 (PubMed )
Supplement: media-2.xlsx › activity_map_scores

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Saccon RA et al.

Brain : a Journal of Neurology, 2013

23687121 (PubMed )
Supplement: supp_awt097_brain-2012-01832-File004.docx

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

Esteban J et al.

Human Molecular Genetics, 1994

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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."