Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis.
Julia PytteRyan S AndertonLoren L FlynnFrances TheunissenLeanne JiangIanthe PitoutIan JamesFrank L MastagliaAnn M SaundersRichard BedlackTeepu SiddiqueNailah SiddiqueP Anthony AkkariPublished in: Neurology. Genetics (2020)
This disease association highlights the importance and implications of further investigation into SVs that may provide new targets for cohort stratification and therapeutic development.
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