GenomicsbioRxivPreprint
Uniquely high spontaneous mutational load in blood cells of XP-C patients
Gordon Fan-Huang, Elizabeth L. Schmidt, Moonsook Lee…·Alexander Y. Maslov
The paper identifies a high spontaneous mutational load in PBMCs of XP-C patients, linked to specific mutation signatures and replication-dependent mutagenesis.
DOI 10.1101/2025.07.16.665113