Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.E134*
Back to variants list

SOD1

NM_000454.5:p.E134*

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

Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis.

Dong S et al.

Phenomics (cham, Switzerland), 2023

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China.

Chen LX et al.

Frontiers in Genetics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."