Article

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

2022-12-22

Abstract excerpt

<h4>Background</h4> 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 (3,864 individuals with ALS and 7,839 controls) and Project MinE ALS Sequenc...

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Literature Corpus work: d1e9a922-3553-58ea-bf0f-264619740ef2
DOI: 10.1101/2022.12.21.22283728

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