Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.G86C
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SOD1

NM_000454.5:p.G86C

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

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Martinelli I et al.

Neural Regeneration Research, 2023

36571338 (PubMed )
Supplement: NRR-18-1427_Suppl2.pdf

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

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.

Pereira GRC et al.

Plos One, 2021

33630959 (PubMed )
Supplement: pone.0247841.s001.docx

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."