Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.V30fs
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SOD1

NM_000454.5:p.V30fs

Associated Papers

Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.

Berdyński M et al.

Human Mutation, 2025

The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics.

Suthar SK et al.

Brain Sciences, 2023

36672132 (PubMed )
Supplement: brainsci-13-00151-s001.zip › brainsci-2094474-supplementary.pdf

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Berdyński M et al.

Scientific Reports, 2022

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Guissart C et al.

Scientific Reports, 2020

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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."