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SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines

18 Mar 2022

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease whose causes are unclear. The first ALS gene associated with the autosomal dominant form of the disease was SOD1. This gene has a high rate of rare variants, and an appropriate classification is essential for a correct ALS diagnosis. In this study, we re-evaluated the classification of all previously reported SOD1 variants (n =...

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Amyotrophic Lateral Sclerosis Research
Neurogenetic and Muscular Disorders Research
Neurological diseases and metabolism

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35328090
DOI: 10.3390/genes13030537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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