Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.N132_E133insFs
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SOD1

NM_000454.5:p.N132_E133insFs

Associated Papers

Tofersen: A Novel Option for the Treatment of Amyotrophic Lateral Sclerosis.

Karros M et al.

The Annals of Pharmacotherapy, 2026

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

Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice.

Meyer T et al.

Muscle & Nerve, 2023

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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."