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Article

<i>C21orf2</i> mutations found in ALS disrupt primary cilia function

2022-03-01

Abstract excerpt

<h4>SUMMARY</h4> Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects 1 in 400 people. Almost 40 genes have been associated with ALS, currently explaining about 15% of the ALS risk. These genes tend to cluster in certain disease pathways such as protein quality control, RNA metabolism and axonal function. Despite these advances, adequate treatments for ALS patien...

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Literature Corpus work
cbb464ce-7e73-5f58-8bd2-af1e937fab0d
DOI
10.1101/2022.02.28.482239
Open publication

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<i>C21orf2</i> mutations found in ALS disrupt primary cilia functionDOI 10.1101/2022.02.28.482239
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