Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.A2P
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SOD1

NM_000454.5:p.A2P

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

The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic Therapies.

Wu J et al.

Journal of Neurochemistry, 2025

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 › abundance_map_scores_LLRps

Neurofilament Light Chain as Biomarker for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Verde F et al.

Frontiers in Neuroscience, 2021

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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."