Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.R80S
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SOD1

NM_000454.5:p.R80S

Associated Papers

Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.

He D et al.

Genes & Diseases, 2025

39314515 (PubMed )
Supplement: mmc1.xlsx › Table_S4

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Wu C et al.

Annals of Clinical and Translational Neurology, 2022

35297556 (PubMed )
Supplement: ACN3-9-633-s001.pdf

Better survival in female SOD1-mutant patients with ALS: a study of SOD1-related natural history.

Tang L et al.

Translational Neurodegeneration, 2019

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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."