Long-read sequencing of biallelic NOTCH2NLC expansions in an asymptomatic NIID family member
This study provides long-read whole-genome sequencing data (Oxford Nanopore and PacBio) from an asymptomatic individual carrying biallelic GGC repeat expansions in NOTCH2NLC, a gene associated with neuronal intranuclear inclusion disease (NIID). The individual, despite having homozygous pathogenic expansions, shows no typical NIID symptoms but exhibits subclinical peripheral neuropathy.