Mosaic variants in disease-associated genes

1. Amyotrophic lateral sclerosis/frontotemporal dementia is associated with mosaic variants in disease-associated genes in humans.

   ReviewSubset of sporadic patients; pathogenicity at low allele frequencies remains unclear

   Update on somatic mutations in major neurodegenerative diseases: mutational signatures in neurons and mosaicism

   Current opinion in genetics & development·8 Oct 2026

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