Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.H47Q
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SOD1

NM_000454.5:p.H47Q

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 › QuadrantID_aminoacidlevel

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 › ddGun_scores

New links between SOD1 and metabolic dysfunction from a yeast model of amyotrophic lateral sclerosis.

Bastow EL et al.

Journal of Cell Science, 2016

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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."