Genetic & Genomic MedicinemedRxivPreprint
Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy
Zitian Tang, Sinem Seleme Övünç, Ryo Iwase…·Sheng Chih Jin
The paper identifies RFC1 AAGGG repeat expansions in idiopathic peripheral neuropathy patients using a new computational pipeline and finds both heterozygous and homozygous expansions contribute to the condition.
DOI 10.1101/2025.04.18.25325809