Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.M1I
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SOD1

NM_000454.5:p.M1I

Associated Papers

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Ruf WP et al.

Brain Communications, 2023

37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf

The ATP Synthase Deficiency in Human Diseases.

Galber C et al.

Life (basel, Switzerland), 2021

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S et al.

Translational Neurodegeneration, 2015

26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 2010

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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."