Article

Landscapes of missense variant impact for human superoxide dismutase 1

2025-02-28

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease for which important subtypes are caused by variation in the Superoxide Dismutase 1 gene SOD1 . Diagnosis based on SOD1 sequencing can not only be definitive but also indicate specific therapies available for SOD1 -associated ALS (SOD1-ALS). Unfortunately, SOD1-ALS diagnosis is limited by the fact that a substantial fraction (currently 26%...

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Literature Corpus work: dbad1a4f-d4b2-5f1b-be6f-f3b1de436467
DOI: 10.1101/2025.02.25.640191

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