Article

High Frequency of Repeat Expansions in UK Biobank Suggests Protective Rare Variants Modulate C9ORF72 Penetrance in Neurodegeneration

2025-09-19

Abstract excerpt

Short tandem repeat expansions are significant contributors to human disease and several repeat-carrying loci have been identified as responsible for severe neurological disorders. Recent population-based studies showed that the frequency of repeat expansion variants is considerably higher than the prevalence of the disease they cause, suggesting that additional genetic, epigenetic, or environmental factors may in...

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Literature Corpus work: 30fa20f3-bc6b-5039-9d82-47e764552966
DOI: 10.1101/2025.09.18.25336048

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