Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.S108fs
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SOD1

NM_000454.5:p.S108fs

Associated Papers

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

Berdyński M et al.

Human Mutation, 2025

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

Huang M et al.

Translational Neurodegeneration, 2024

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

Amyotrophic lateral sclerosis causes small fiber pathology.

Dalla Bella E et al.

European Journal of Neurology, 2016

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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."