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Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes

30 Jun 2023

Abstract excerpt

Within recent years, there has been a growing number of genes associated with amyotrophic lateral sclerosis (ALS), resulting in an increasing number of novel variants, particularly missense variants, many of which are of unknown clinical significance. Here, we leverage the sequencing efforts of the ALS Knowledge Portal (3864 individuals with ALS and 7839 controls) and Project MinE ALS Sequencing Consortium (4366...

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PMID: 37394881
DOI: 10.1093/brain/awad224

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